Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 166024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome 1 Multiple epiphyseal dysplasia, Al-Gazali type Disease Disorder ICD-11 LD24.61 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2009123831 1359939784 MONDO 0011778 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 607131 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4304500 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and <i>genu valgum</i>. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and <i>pectus excavatum</i>. 166032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome 1 Disease Disorder MeSH C563735 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012254 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.61 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2009123831 1929277234 UMLS C5924992 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 609325 E (Exact mapping: the two concepts are equivalent) Validated Definition Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. 58 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 Alexander disease 1 AxD Disease Disorder OMIM 203450 E (Exact mapping: the two concepts are equivalent) Validated MeSH D038261 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0270726 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G93.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MedDRA 10083059 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A44.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2023359698 2023359698 GARD 5774 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008752 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. 166029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome 1 Disease Disorder MeSH C563736 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.61 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2009123831 1488207821 UMLS C5924993 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012253 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 609324 E (Exact mapping: the two concepts are equivalent) Validated Definition Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. 61 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 Alpha-mannosidosis 1 Lysosomal alpha-D-mannosidase deficiency Disease Disorder MedDRA 10083855 E (Exact mapping: the two concepts are equivalent) Validated OMIM 248500 E (Exact mapping: the two concepts are equivalent) Validated MeSH D008363 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0024748 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E77.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0009561 E (Exact mapping: the two concepts are equivalent) Validated GARD 6968 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.21 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1805681916 1944256516 Definition An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. 166038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038 Metaphyseal chondrodysplasia, Kaitila type 512 Historical entity 1 Disease Disorder MeSH C565400 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0009594 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1855217 E (Exact mapping: the two concepts are equivalent) Validated OMIM 250230 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#717143930 Definition Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. 166035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 Brachydactyly-short stature-retinitis pigmentosa syndrome 1 Malformation syndrome Disorder MONDO 0009598 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 250410 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5190709 E (Exact mapping: the two concepts are equivalent) Validated Definition Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies. 93 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 Aspartylglucosaminuria 1 Aspartylglucosaminidase deficiency Disease Disorder MedDRA 10068220 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E77.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated UMLS C0268225 E (Exact mapping: the two concepts are equivalent) Validated OMIM 208400 E (Exact mapping: the two concepts are equivalent) Validated MeSH D054880 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.21 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1805681916 2143470200 MONDO 0008830 E (Exact mapping: the two concepts are equivalent) Validated GARD 5854 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. 585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 Multiple sulfatase deficiency 1 MSD Austin disease Mucosulfatidosis Disease Disorder MeSH D052517 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 272200 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010088 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268263 E (Exact mapping: the two concepts are equivalent) Validated GARD 5061 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1875237176%2fother 848083807 Definition A rare lysosomal disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not). Clinical manifestations can include developmental delay, progressive neurologic deterioration, hydrocephalus, hypotonia, coarse facial features, retinopathy, skeletal anomalies, hepatomegaly and ichthyosis to a variable degree. Multiple sulfatase deficiency (MSD) comprises severe to attenuated forms historically classified as neonatal (most severe form), infantile (most common form) or juvenile (rarest form). 118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 Beta-mannosidosis 1 Beta-mannosidase deficiency Disease Disorder GARD 869 E (Exact mapping: the two concepts are equivalent) Validated MeSH D044905 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009562 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E77.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 248510 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4048196 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.21 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1805681916 1578707401 Definition Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. 166068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166068 Pontocerebellar hypoplasia type 5 8192 Inactive 256 Deprecated entity 1 Fetal-onset olivopontocerebellar hypoplasia PCH5 Malformation syndrome Disorder UMLS C1857762 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610204 E (Exact mapping: the two concepts are equivalent) Validated GARD 10709 E (Exact mapping: the two concepts are equivalent) Validated 166063 Pontocerebellar hypoplasia type 4 Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pontocerebellar hypoplasia type 4 141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 Canavan disease 1 ACY2 deficiency Aminoacylase 2 deficiency Aspartoacylase deficiency Spongy degeneration of the brain Disease Disorder MeSH D017825 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0206307 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10067608 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated OMIM 271900 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010079 E (Exact mapping: the two concepts are equivalent) Validated GARD 5984 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.E1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1644149132 1576870846 Definition Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. 166063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 Pontocerebellar hypoplasia type 4 1 Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Olivopontocerebellar hypoplasia PCH4 Malformation syndrome Disorder MONDO 0009166 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536716 E (Exact mapping: the two concepts are equivalent) Validated OMIM 225753 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1856974 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q04.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 343 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD20.01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1565266279 447667859 166068 Pontocerebellar hypoplasia type 5 Moved to Definition A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. 166078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078 Von Willebrand disease type 1 1 Clinical subtype Subtype of disorder ICD-11 3B12 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2112021600 1861858008 MONDO 0008668 E (Exact mapping: the two concepts are equivalent) Validated MeSH D056725 E (Exact mapping: the two concepts are equivalent) Validated OMIM 193400 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1264039 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D68.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). 206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206 NON RARE IN EUROPE: Crohn disease 8192 Inactive 1 32 Non-rare disease in Europe Disease Disorder This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 166073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 Pontocerebellar hypoplasia type 6 1 Fatal infantile encephalopathy with mitochondrial respiratory chain defects PCH6 Malformation syndrome Disorder MONDO 0012683 E (Exact mapping: the two concepts are equivalent) Validated MeSH C548074 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1969084 E (Exact mapping: the two concepts are equivalent) Validated OMIM 611523 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q04.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 10710 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD20.01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1565266279 1612653027 Definition A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. 213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 Cystinosis 1 Protein defect of cystin transport Disease Disorder MeSH D003554 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C60.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#733715856 733715856 UMLS C4316899 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10011777 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 219800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 219900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0016239 E (Exact mapping: the two concepts are equivalent) Validated GARD 6236 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. 166084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 Von Willebrand disease type 2A 1 Clinical subtype Subtype of disorder ICD-11 3B12 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2112021600 1009291548 ICD-10 D68.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 613554 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C1282968 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015628 E (Exact mapping: the two concepts are equivalent) Validated Definition A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). 333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 Farber disease 1 Acid ceramidase deficiency Farber lipogranulomatosis Disease Disorder MedDRA 10083960 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH D055577 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268255 E (Exact mapping: the two concepts are equivalent) Validated OMIM 228000 E (Exact mapping: the two concepts are equivalent) Validated GARD 6426 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009218 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1875237176%2fother 122136943 Definition A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. 166081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081 Von Willebrand disease type 2 1 Clinical subtype Subtype of disorder ICD-11 3B12 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2112021600 1658351780 MONDO 0013304 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613554 E (Exact mapping: the two concepts are equivalent) Validated MeSH D056728 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1264040 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D68.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. 349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 Fucosidosis 1 Alpha-L-fucosidase deficiency Disease Disorder MeSH D005645 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0016788 E (Exact mapping: the two concepts are equivalent) Validated OMIM 230000 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E77.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0009254 E (Exact mapping: the two concepts are equivalent) Validated GARD 6473 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.21 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1805681916 1470242510 Definition A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. 166090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090 Von Willebrand disease type 2M 1 Clinical subtype Subtype of disorder ICD-11 3B12 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2112021600 1358085002 OMIM 613554 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C1282974 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D68.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015630 E (Exact mapping: the two concepts are equivalent) Validated Definition A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). 365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 Glycogen storage disease due to acid maltase deficiency 1 Alpha-1,4-glucosidase acid deficiency GSD due to acid maltase deficiency GSD type 2 Glycogen storage disease type 2 Glycogenosis due to acid maltase deficiency Glycogenosis type 2 Pompe disease GSD type II Glycogen storage disease type II Glycogenosis type II Disease Disorder ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 232300 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006009 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0017921 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053185 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009290 E (Exact mapping: the two concepts are equivalent) Validated GARD 5714 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 1427054474 Definition A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency. 166087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087 Von Willebrand disease type 2B 1 Clinical subtype Subtype of disorder ICD-11 3B12 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2112021600 1383884415 ICD-10 D68.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C1282971 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613554 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MONDO 0015629 E (Exact mapping: the two concepts are equivalent) Validated Definition A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). 366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 Glycogen storage disease due to glycogen debranching enzyme deficiency 1 GSDIII Glycogen storage disease type 3 Glycogenosis due to glycogen debranching enzyme deficiency Glycogenosis type 3 Limit dextrinosis Amylo-1,6-glucosidase deficiency Cori disease Cori-Forbes disease Forbes disease GDE deficiency GSD due to glycogen debranching enzyme deficiency GSD type 3 Glycogen storage disease type III Glycogenosis type III Disease Disorder ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated UMLS C0017922 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053250 E (Exact mapping: the two concepts are equivalent) Validated OMIM 232400 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009291 E (Exact mapping: the two concepts are equivalent) Validated GARD 9442 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006010 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 530430134 Definition A rare inborn error of metabolism disease characterized by variable liver, skeletal muscle and cardiac involvement, usually presenting in early childhood. 166093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093 Von Willebrand disease type 2N 1 Clinical subtype Subtype of disorder ICD-10 D68.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 3B12 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2112021600 1091176565 OMIM 613554 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C1282975 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015631 E (Exact mapping: the two concepts are equivalent) Validated Definition A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.). 368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency 1 GSD due to muscle glycogen phosphorylase deficiency GSD type 5 Glycogen storage disease type 5 Glycogenosis due to muscle glycogen phosphorylase deficiency Glycogenosis type 5 McArdle disease Myophosphorylase deficiency GSD type V Glycogen storage disease type V Glycogenosis type V Disease Disorder MedDRA 10018462 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 232600 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006012 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0017924 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009293 E (Exact mapping: the two concepts are equivalent) Validated GARD 6528 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 1934070304 Definition A form of glycogen storage disease (GSD) characterized by exercise intolerance and rhabdomyolysis episodes, due to a deficiency of the muscle isoform of glycogen phosphorylase. 166096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096 Von Willebrand disease type 3 1 Clinical subtype Subtype of disorder ICD-11 3B12 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2112021600 805917536 MONDO 0010191 E (Exact mapping: the two concepts are equivalent) Validated MeSH D056729 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D68.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C1264041 E (Exact mapping: the two concepts are equivalent) Validated OMIM 277480 E (Exact mapping: the two concepts are equivalent) Validated Definition A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD. 367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 Glycogen storage disease due to glycogen branching enzyme deficiency 1 GSD due to glycogen branching enzyme deficiency GSD type 4 Glycogen storage disease type 4 Glycogenosis due to glycogen branching enzyme deficiency Glycogenosis type 4 Amylopectinosis Andersen disease GSD type IV Glycogen storage disease type IV Glycogenosis type IV Disease Disorder UMLS C0017923 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053249 E (Exact mapping: the two concepts are equivalent) Validated OMIM 232500 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 263570 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0009292 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006011 E (Exact mapping: the two concepts are equivalent) Validated GARD 2520 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 36127628 Definition A rare form of glycogen storage disease characterized by a continuum of clinical manifestations of variable presentation and severity, involving hepatic, neuromuscular and/or cardiac symptoms. 166100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 Autosomal dominant otospondylomegaepiphyseal dysplasia 1 AD OSMED Stickler syndrome type 3 Stickler syndrome, non-ocular type Malformation syndrome Disorder MONDO 0008490 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 1851139619 MeSH C537494 E (Exact mapping: the two concepts are equivalent) Validated OMIM 184840 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1861481 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated 3450 Weissenbacher-Zweymuller syndrome Moved to Definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. 371 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 Glycogen storage disease due to muscle phosphofructokinase deficiency 1 GSD due to muscle phosphofructokinase deficiency GSD type 7 Glycogen storage disease type 7 Glycogenosis due to muscle phosphofructokinase deficiency Glycogenosis type 7 Tarui disease GSD type VII Glycogen storage disease type VII Glycogenosis type VII Disease Disorder OMIM 232800 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0017926 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053241 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0009295 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006014 E (Exact mapping: the two concepts are equivalent) Validated GARD 5686 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 1985620430 Definition A rare form of glycogen storage disease (GSD) characterized classically by exertional fatigue and muscular exercise intolerance. It occurs typically in childhood and adolescence. 166105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 FASTKD2-related infantile mitochondrial encephalomyopathy 1 Disease Disorder ICD-11 5C53.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1204111545%2fother 356231901 MONDO 0015632 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4755278 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618855 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. 369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 Glycogen storage disease due to liver glycogen phosphorylase deficiency 1 GSD due to liver glycogen phosphorylase deficiency Glycogen storage disease type 6 Glycogenosis due to liver glycogen phosphorylase deficiency GSD type 6 Hepatic glycogen phosphorylase deficiency Hepatic phosphorylase deficiency Hers disease Liver glycogen phosphorylase deficiency Glycogenosis type 6 GSD type VI Glycogen storage disease type VI Glycogenosis type VI Disease Disorder OMIM 232700 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0017925 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053240 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0009294 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006013 E (Exact mapping: the two concepts are equivalent) Validated GARD 6529 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 1656693213 Definition A rare form of glycogen storage disease (GSD) characterized by a deficiency of hepatic glycogen phosphorylase leading to impaired glycogenolysis, and characterized by hepatomegaly and growth delay in childhood. 447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 Paroxysmal nocturnal hemoglobinuria 1 Marchiafava-Micheli disease PNH Disease Disorder OMIM 300818 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615399 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 3A21.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#859588467 859588467 MeSH D006457 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0024790 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10034042 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D59.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 7337 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0100244 E (Exact mapping: the two concepts are equivalent) Validated Definition Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. 166108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 Birk-Barel syndrome 1 Intellectual disability-hypotonia-facial dysmorphism syndrome Birk-Barel Intellectual Disability-Dimorphism syndrome KCNK9 imprinting syndrome Disease Disorder MONDO 0012856 E (Exact mapping: the two concepts are equivalent) Validated MeSH C567357 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612292 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2676770 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 10358 E (Exact mapping: the two concepts are equivalent) Validated Definition Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features. 166113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113 Bazex syndrome 1 Acrokeratosis of Bazex Acrokeratosis paraneoplastica Acrokeratosis paraneoplastica of Bazex Disease Disorder MedDRA 10065247 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EL10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2037463157 783577196 ICD-10 L44.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0406355 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare paraneoplastic syndrome characterized by acral psoriasiform lesions typically involving the ears, nose, fingers and nails of the hands and feet, but may also extend to cheeks, elbows, knees and trunk, with occasional pruritus. In a majority of cases the cutaneous lesions precede the symptoms/diagnosis of malignancy (generally involving the upper aerodigestive tract, but also other squamous cell malignancies). 535 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535 Rare cutaneous lupus erythematosus 1 Clinical group Group of disorders GARD 6225 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680424 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10056509 E (Exact mapping: the two concepts are equivalent) Validated 46489 OBSOLETE: Bullous systemic lupus erythematosus Referred to 90287 OBSOLETE: Maculopapular lupus rash Referred to 163528 OBSOLETE: Acute cutaneous lupus erythematosus Referred to Definition Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE). 166119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 Isolated osteopoikilosis 1 Disease Disorder MONDO 0015634 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.11 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#801926378 801926378 ICD-10 Q78.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH C563484 E (Exact mapping: the two concepts are equivalent) Validated OMIM 166700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C1833699 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. 487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 Krabbe disease 1 GALC deficiency Galactocerebrosidase deficiency Galactosylceramidase deficiency Globoid cell leukodystrophy Disease Disorder OMIM 245200 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A44.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#796317173 796317173 MONDO 0009499 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10023492 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH D007965 E (Exact mapping: the two concepts are equivalent) Validated GARD 6844 E (Exact mapping: the two concepts are equivalent) Validated OMIM 611722 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0023521 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood). 166260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260 Dentinogenesis imperfecta type 2 1 Capdepont teeth DGI-2 DI-2 Dentinogenesis imperfecta, Shields type 2 Clinical subtype Subtype of disorder ICD-11 LA30.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2090257992 314718507 OMIM 125490 E (Exact mapping: the two concepts are equivalent) Validated OMIM 605594 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 K00.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0007441 E (Exact mapping: the two concepts are equivalent) Validated GARD 12796 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2973527 E (Exact mapping: the two concepts are equivalent) Validated Definition Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth. 166265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265 Dentinogenesis imperfecta type 3 1 Dentinogenesis imperfecta, Shields type 3 Clinical subtype Subtype of disorder ICD-11 LA30.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2090257992 518257495 OMIM 125500 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007442 E (Exact mapping: the two concepts are equivalent) Validated GARD 10144 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0399378 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538216 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 K00.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). 583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 Mucopolysaccharidosis type 6 1 ARSB deficiency ASB deficiency Arylsulfatase B deficiency MPS6 MPSVI Maroteaux-Lamy disease Mucopolysaccharidosis type VI N-acetylgalactosamine 4-sulfatase deficiency Disease Disorder MONDO 0009661 E (Exact mapping: the two concepts are equivalent) Validated MeSH D009087 E (Exact mapping: the two concepts are equivalent) Validated GARD 7095 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0026709 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10056892 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E76.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 253200 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.33 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1288379621 1288379621 Definition Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. 166272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 Odontochondrodysplasia 1 Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome Goldblatt chondrodysplasia ODCD Goldblatt syndrome Malformation syndrome Disorder UMLS C2745953 E (Exact mapping: the two concepts are equivalent) Validated OMIM 184260 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0100325 E (Exact mapping: the two concepts are equivalent) Validated GARD 8717 E (Exact mapping: the two concepts are equivalent) Validated MONDO 100325 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535792 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. 576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 Mucolipidosis type II 1 I-cell disease N-acetylglucosamine 1-phosphotransferase deficiency Mucolipidosis type II alpha/beta Disease Disorder UMLS C0020725 E (Exact mapping: the two concepts are equivalent) Validated OMIM 252500 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E77.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 6749 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009650 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.20 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#714623911 1130629620 MeSH C538602 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10072928 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay. 166277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 1 Suarez-Stickler syndrome Malformation syndrome Disorder GARD 10290 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4518794 E (Exact mapping: the two concepts are equivalent) Validated OMIM 604922 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0011501 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.KY NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1325365261%2fother 1814891078 Definition A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. 812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 Sialidosis type 1 1 Cherry-red spot-myoclonus syndrome Lipomucopolysaccharidosis Normomorphic sialidosis Disease Disorder ICD-11 5C56.21 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1805681916 1154773192 MONDO 0019346 E (Exact mapping: the two concepts are equivalent) Validated GARD 7639 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0023806 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E77.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 256550 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated Definition Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. 166282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282 Hereditary sick sinus syndrome 1 Disease Disorder MONDO 0012061 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10040639 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 I49.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D012804 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0340491 E (Exact mapping: the two concepts are equivalent) Validated OMIM 163800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 182190 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608567 E (Exact mapping: the two concepts are equivalent) Validated OMIM 614090 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 BC65.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1524522975%2fother 1495462959 GARD 13663 E (Exact mapping: the two concepts are equivalent) Validated OMIM 619464 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated 3122 OBSOLETE: Sinus node disease-myopia syndrome Referred to 1260 OBSOLETE: Sino-auricular heart block Referred to Definition A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients. 578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 Mucolipidosis type IV 1 Disease Disorder OMIM 252650 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0238286 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 94 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009653 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1875237176%2fother 597963317 MedDRA 10072930 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features. 166286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286 Porokeratotic eccrine ostial and dermal duct nevus 1 Comedo nevus of the palm Porokeratotic eccrine nevus Disease Disorder ICD-11 LC02 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#923306251 1041756082 MONDO 0015635 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0473579 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q82.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated 577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 Mucolipidosis type III 1 Pseudo-Hurler polydystrophy Disease Disorder OMIM 252600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 252605 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 E77.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated UMLS C0033788 E (Exact mapping: the two concepts are equivalent) Validated GARD 3806 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.20 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#714623911 1736525440 MedDRA 10072929 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII). 166291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166291 Dirofilariasis 1 Disease Disorder ICD-11 1F66.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1975325075%2fother 1349492056 MeSH D004184 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10080290 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0012602 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B74.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0015636 E (Exact mapping: the two concepts are equivalent) Validated GARD 11908 E (Exact mapping: the two concepts are equivalent) Validated Definition Dirofilariasis is a form of filariasis, caused by the filarial nematode of the genus <i>Dirofilaria</i> (including <i>Dirofilaria repens</i>, <i>Dirofilaria immitis</i>), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of 'crawling' under the skin, and the ''Calabar'' swelling (similar to thatin loiasis. The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk. 166295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166295 Benign non-familial infantile seizures 8192 Inactive 256 Deprecated entity 1 Clinical group Group of disorders UMLS C5680425 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015637 E (Exact mapping: the two concepts are equivalent) Validated 306 Self-limited infantile epilepsy Moved to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Self-limited infantile epilepsy 771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=771 NON RARE IN EUROPE: Ulcerative colitis 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Ulcerative proctitis NON RARE IN EUROPE: Ulcerative proctosigmoiditis Disease Disorder This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 166308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308 Benign infantile focal epilepsy with midline spikes and waves during sleep 1 BIMSE Disease Disorder ICD-11 8A61.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1944845279 1231731968 MONDO 0015641 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4749346 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. 166305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166305 OBSOLETE: Benign infantile seizures associated with mild gastroenteritis 8192 Inactive 16 Obsolete entity Disease Disorder 693802 Neonatal-infantile onset epilepsy syndrome Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Neonatal-infantile onset epilepsy syndrome 2912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2912 Poliomyelitis 1 Disease Disorder MONDO 0017373 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A80.4 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D011051 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0032371 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10036012 E (Exact mapping: the two concepts are equivalent) Validated GARD 7413 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 1C81 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#588527933 588527933 ICD-10 A80.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A80.3 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A80.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A80.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A80.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated 330009 OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk Referred to Definition Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses. 166302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166302 Benign partial epilepsy with secondarily generalized seizures in infancy 8192 Inactive 256 Deprecated entity 1 Disease Disorder MONDO 0015639 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4749728 E (Exact mapping: the two concepts are equivalent) Validated 306 Self-limited infantile epilepsy Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Self-limited infantile epilepsy 166299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166299 Benign partial epilepsy of infancy with complex partial seizures 8192 Inactive 256 Deprecated entity 1 Disease Disorder MONDO 0015638 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4749347 E (Exact mapping: the two concepts are equivalent) Validated 306 Self-limited infantile epilepsy Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Self-limited infantile epilepsy 796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 Sandhoff disease 1 Disease Disorder ICD-10 E75.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 268800 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0036161 E (Exact mapping: the two concepts are equivalent) Validated MeSH D012497 E (Exact mapping: the two concepts are equivalent) Validated GARD 2521 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#797306953 708581915 MONDO 0010006 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A and hexosaminidase B deficiency as a consequence of biallelic pathogenic variants in the <i>HEXB</i> gene. 166409 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166409 Photosensitive occipital lobe epilepsy 1 POLE Disease Disorder MONDO 0015643 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 132100 E (Exact mapping: the two concepts are equivalent) Validated OMIM 609572 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609573 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0393720 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A61.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#276807111 946957931 GARD 5648 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare epilepsy syndrome with onset in childhood and adolescence characterized by focal seizures involving the occipital lobe triggered by visual stimuli. 801 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=801 Scleroderma 1 Clinical group Group of disorders UMLS C0011644 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10039710 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0019340 E (Exact mapping: the two concepts are equivalent) Validated Definition Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). 166311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166311 Benign partial infantile seizures 8192 Inactive 256 Deprecated entity 1 Clinical group Group of disorders MONDO 0015642 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680426 E (Exact mapping: the two concepts are equivalent) Validated 306 Self-limited infantile epilepsy Moved to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Self-limited infantile epilepsy 461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 Recessive X-linked ichthyosis 1 RXLI Steroid sulfatase deficiency X-linked ichthyosis XLI Disease Disorder UMLS C2720163 E (Exact mapping: the two concepts are equivalent) Validated GARD 7904 E (Exact mapping: the two concepts are equivalent) Validated MeSH D016114 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010622 E (Exact mapping: the two concepts are equivalent) Validated OMIM 308100 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EC20.01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1466487054 1466487054 ICD-10 Q80.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild. 166421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166421 Orgasm-induced epilepsy 1 Disease Disorder ICD-11 8A61.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#276807111 551362699 MONDO 0015646 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4706598 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. 856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=856 NON RARE IN EUROPE: Tourette syndrome 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Tourette disease NON RARE IN EUROPE: Gilles de la Tourette syndrome NON RARE IN EUROPE: GTS Disease Disorder ICD-10 F95.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 166418 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166418 Eating reflex epilepsy 1 Eating epilepsy Eating seizures Disease Disorder MONDO 0015645 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0393725 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 8A61.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#276807111 91977543 Definition A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies. 166415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166415 Audiogenic epilepsy 1 Disease Disorder ICD-11 8A61.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#276807111 1621154548 MONDO 0015644 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0751791 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice). 584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 Mucopolysaccharidosis type 7 1 Beta-glucuronidase deficiency MPS7 MPSVII Mucopolysaccharidosis type VII Sly disease Disease Disorder UMLS C0085132 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009662 E (Exact mapping: the two concepts are equivalent) Validated MeSH D016538 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10056893 E (Exact mapping: the two concepts are equivalent) Validated OMIM 253220 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E76.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 7096 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.3Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1596128696%2fother 1563668250 Definition A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease. 825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=825 NON RARE IN EUROPE: Ankylosing spondylitis 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Bechterew syndrome NON RARE IN EUROPE: Ankylosing spondylarthritis Disease Disorder ICD-10 M45 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 166412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166412 Hot water reflex epilepsy 1 HWE Disease Disorder ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 8A61.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#276807111 197153111 OMIM 613339 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613340 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C4706506 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013229 E (Exact mapping: the two concepts are equivalent) Validated Definition Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. 166433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433 Epilepsy with reading-induced seizures 1 EwRIS Disease Disorder ICD-11 8A61.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#276807111 692290356 OMIM 132300 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0278193 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007560 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures. 166430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166430 Micturition-induced epilepsy 1 Disease Disorder MONDO 0015649 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A61.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#276807111 2121478392 UMLS C4706587 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Micturation-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases. 881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 Turner syndrome 1 45,X syndrome 45,X/46,XX syndrome Malformation syndrome Disorder ICD-11 LD50.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1987089698 1987089698 ICD-10 Q96.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q96.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0019499 E (Exact mapping: the two concepts are equivalent) Validated GARD 7831 E (Exact mapping: the two concepts are equivalent) Validated MeSH D014424 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0041408 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10045181 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q96.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q96.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q96.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q96.3 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q96.4 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities. 166427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166427 Startle epilepsy 1 Disease Disorder MONDO 0015648 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A61.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#276807111 1012101161 UMLS C4706527 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability. 166424 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166424 Thinking epilepsy 1 Disease Disorder ICD-11 8A61.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#276807111 709920743 MONDO 0015647 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4706523 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated 99649 OBSOLETE: Generalized epilepsy and praxis-induced seizures Referred to Definition Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g. Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed. 95 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 Friedreich ataxia 1 FA FRDA Disease Disorder ICD-11 8A03.10 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#980686666 980686666 MeSH D005621 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0016719 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10017374 E (Exact mapping: the two concepts are equivalent) Validated OMIM 229300 E (Exact mapping: the two concepts are equivalent) Validated OMIM 601992 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 G11.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0100339 E (Exact mapping: the two concepts are equivalent) Validated MONDO 100339 E (Exact mapping: the two concepts are equivalent) Validated GARD 6468 E (Exact mapping: the two concepts are equivalent) Validated Definition Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing. 166466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166466 Neurocutaneous syndrome with epilepsy 1 Category Group of disorders UMLS C5680427 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 Beta-thalassemia 1 Clinical group Group of disorders MONDO 0019402 E (Exact mapping: the two concepts are equivalent) Validated GARD 871 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0005283 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10043391 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3A50.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2063292324 2063292324 ICD-10 D56.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 613985 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D017086 E (Exact mapping: the two concepts are equivalent) Validated OMIM 603902 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). 166469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166469 Chromosomal anomaly with epilepsy as a major feature 1 Category Group of disorders UMLS C5680428 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846 Alpha-thalassemia 1 Clinical group Group of disorders ICD-11 3A50.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#531667506 531667506 GARD 621 E (Exact mapping: the two concepts are equivalent) Validated MeSH D017085 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011399 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10043390 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D56.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 604131 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0002312 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. 166457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166457 OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis 8192 Inactive 16 Obsolete entity Category Group of disorders 97275 Encephalitis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Encephalitis 586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 Cystic fibrosis 1 CF Mucoviscidosis Disease Disorder ICD-11 CA25 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#514403112 514403112 GARD 6233 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E84.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 E84.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 219700 E (Exact mapping: the two concepts are equivalent) Validated MeSH D003550 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0010674 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10011762 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E84.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 E84 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0009061 E (Exact mapping: the two concepts are equivalent) Validated 98113 OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly Referred to Definition A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature. 166463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166463 Epilepsy syndrome 1 Category Group of disorders UMLS C4505072 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015650 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000073376 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 166478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166478 Cerebral malformation with epilepsy 1 Category Group of disorders UMLS C5680429 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 Duchenne and Becker muscular dystrophy 1 Severe dystrophinopathy, Duchenne and Becker type Clinical group Group of disorders UMLS C3542021 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females. 166481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166481 Metabolic diseases with epilepsy 1 Category Group of disorders UMLS C1299598 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 166472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166472 Monogenic disease with epilepsy 1 Category Group of disorders UMLS C5680430 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 166475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes 1 Category Group of disorders UMLS C5680431 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 Emery-Dreifuss muscular dystrophy 1 EDMD Disease Disorder ICD-11 8C70.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#749295636 749295636 ICD-10 G71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 614302 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616516 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0410189 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020389 E (Exact mapping: the two concepts are equivalent) Validated GARD 6329 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10081544 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016830 E (Exact mapping: the two concepts are equivalent) Validated OMIM 181350 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300696 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 310300 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612998 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612999 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. 166490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166490 Infectious disease with epilepsy 1 Category Group of disorders UMLS C5680432 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 166484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166484 Inflammatory and autoimmune disease with epilepsy 1 Category Group of disorders UMLS C5680433 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 166487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166487 Cerebral diseases of vascular origin with epilepsy 1 Category Group of disorders UMLS C5680434 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 MELAS 1 Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes Disease Disorder GARD 7009 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010789 E (Exact mapping: the two concepts are equivalent) Validated MeSH D017241 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053872 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 8C73.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#601991549%2fother 1369657886 OMIM 540000 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0162671 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. 269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269 Facioscapulohumeral dystrophy 1 Landouzy-Dejerine dystrophy FSH dystrophy FSHD Facioscapulohumeral muscular dystrophy Facioscapulohumeral myopathy Landouzy-Dejerine myopathy Disease Disorder OMIM 619478 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619477 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 8C70.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#621965073 621965073 UMLS C0238288 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10064087 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 158900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 158901 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600416 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D020391 E (Exact mapping: the two concepts are equivalent) Validated GARD 9941 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0001347 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles. 480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 Kearns-Sayre syndrome 1 Disease Disorder ICD-10 H49.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 9C82.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1698427219 399100745 OMIM 530000 E (Exact mapping: the two concepts are equivalent) Validated MeSH D007625 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0022541 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10048804 E (Exact mapping: the two concepts are equivalent) Validated GARD 6817 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010787 E (Exact mapping: the two concepts are equivalent) Validated 3390 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Moved to Definition A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. 593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=593 Myofibrillar myopathy 1 MFM Category Group of disorders ICD-11 8C76 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#125656853 125656853 MedDRA 10087101 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018943 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2678065 E (Exact mapping: the two concepts are equivalent) Validated MeSH C580316 E (Exact mapping: the two concepts are equivalent) Validated GARD 10529 E (Exact mapping: the two concepts are equivalent) Validated Definition Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. 163898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163898 OBSOLETE: Classic paraneoplastic limbic encephalitis 8192 Inactive 16 Obsolete entity OBSOLETE: Classic paraneoplastic limbic encephalitis, with or without intracellular antigens Disease Disorder 622014 Autoimmune encephalitis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Autoimmune encephalitis 163895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163895 OBSOLETE: Paraneoplastic limbic encephalitis 8192 Inactive 16 Obsolete entity Clinical group Group of disorders 622014 Autoimmune encephalitis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Autoimmune encephalitis 163908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163908 OBSOLETE: Limbic encephalitis with LGI1 antibodies 8192 Inactive 16 Obsolete entity OBSOLETE: Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies Disease Disorder 622014 Autoimmune encephalitis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Autoimmune encephalitis 163903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163903 OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens 8192 Inactive 16 Obsolete entity Category Group of disorders 622014 Autoimmune encephalitis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Autoimmune encephalitis 551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 MERRF 1 Fukuhara syndrome Myoclonus epilepsy associated with ragged-red fibres Disease Disorder MedDRA 10069825 E (Exact mapping: the two concepts are equivalent) Validated GARD 7144 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 8C73.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#601991549%2fother 1630114989 MONDO 0010790 E (Exact mapping: the two concepts are equivalent) Validated OMIM 545000 E (Exact mapping: the two concepts are equivalent) Validated MeSH D017243 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0162672 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. 597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 Central core disease 1 Disease Disorder ICD-11 8C72.02 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2065822840 2065822840 ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated UMLS C0751951 E (Exact mapping: the two concepts are equivalent) Validated GARD 6014 E (Exact mapping: the two concepts are equivalent) Validated MONDO 7294 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007294 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020512 E (Exact mapping: the two concepts are equivalent) Validated OMIM 117000 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10057620 E (Exact mapping: the two concepts are equivalent) Validated Definition Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. 607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=607 Nemaline myopathy 1 NEM NM Nemaline rod myopathy Clinical group Group of disorders MeSH D017696 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018958 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0206157 E (Exact mapping: the two concepts are equivalent) Validated GARD 12033 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1996502540 1996502540 Definition Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. 163892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163892 OBSOLETE: Limbic encephalitis 8192 Inactive 16 Obsolete entity Clinical group Group of disorders 622014 Autoimmune encephalitis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Autoimmune encephalitis 163746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease 1 Neurologic Waardenburg-Shah syndrome PCWH WS4 plus Disease Disorder UMLS C1836727 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 609136 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012198 E (Exact mapping: the two concepts are equivalent) Validated MeSH C563789 E (Exact mapping: the two concepts are equivalent) Validated Definition Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. 684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 Paramyotonia congenita of Von Eulenburg 1 Paramyotonia congenita Disease Disorder ICD-11 8C74.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1740060527 1740060527 GARD 7325 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10088318 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 168300 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0221055 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008195 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia. 163931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163931 Acrodermatitis continua of Hallopeau 1 Disease Disorder ICD-11 EA90.41 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1359173639 1359173639 UMLS C0392439 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 L40.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated Definition A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed. 273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 Steinert myotonic dystrophy 1 Myotonic dystrophy type 1 Steinert disease Disease Disorder OMIM 160900 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538008 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3250443 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0008056 E (Exact mapping: the two concepts are equivalent) Validated GARD 8310 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#192087511 557405480 Definition A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. 163927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163927 Pustulosis palmaris et plantaris 1 LPP Localized pustular psoriasis PPP Palmoplantar pustulosis Disease Disorder ICD-11 EA90.42 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#877172115 877172115 MONDO 0015597 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 L40.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0030246 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10050185 E (Exact mapping: the two concepts are equivalent) Validated GARD 12820 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking. 163937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 X-linked intellectual disability, Najm type 1 MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome Disease Disorder ICD-10 Q04.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 300749 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010417 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD90.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#775270311%2fother 1426958919 GARD 12669 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2677903 E (Exact mapping: the two concepts are equivalent) Validated Definition Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. 163934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163934 Atopic keratoconjunctivitis 1 Disease Disorder UMLS C1274788 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10069664 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 H16.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015599 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 9A60.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#392841027%2fother 1941631830 Definition A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis. 163918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163918 OBSOLETE: Non-paraneoplastic limbic encephalitis 8192 Inactive 16 Obsolete entity Category Group of disorders 622014 Autoimmune encephalitis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Autoimmune encephalitis 163914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163914 OBSOLETE: Limbic encephalitis with nCMAgs antibodies 8192 Inactive 16 Obsolete entity OBSOLETE: Limbic encephalitis with novel cell membrane antigen antibodies Disease Disorder 622014 Autoimmune encephalitis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Autoimmune encephalitis 163924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163924 OBSOLETE: Non-herpetic acute limbic encephalitis 8192 Inactive 16 Obsolete entity Disease Disorder 622014 Autoimmune encephalitis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Autoimmune encephalitis 614 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 Thomsen and Becker disease 1 Myotonia congenita Disease Disorder ICD-11 8C71.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1916703439 1916703439 GARD 12301 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0027127 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10028655 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 160800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 255700 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0009710 E (Exact mapping: the two concepts are equivalent) Validated 98115 OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly Referred to Definition A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). 163921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163921 Posttransplant acute limbic encephalitis 1 PALE Particular clinical situation in a disease or syndrome Disorder MONDO 0015595 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4750744 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G04.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated. 163966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 1 X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome Disease Disorder OMIM 300863 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0010463 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4304401 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.A NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#533702276 Definition X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. 163971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 X-linked intellectual disability, Cilliers type 1 X-linked intellectual disability-microcephaly-testicular failure syndrome Disease Disorder MONDO 0015600 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4305024 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD90 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#775270311 Definition A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). 163976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 X-linked intellectual disability, Van Esch type 1 Malformation syndrome Disorder OMIM 301030 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015601 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4305072 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD90 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#775270311 Definition A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorphism include upslanted palpebral fissures and prominent nasal bridge. 163979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979 X-linked intellectual disability-craniofacioskeletal syndrome 1 Disease Disorder ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 300712 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4750743 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD90 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#775270311 MONDO 0010412 E (Exact mapping: the two concepts are equivalent) Validated Definition X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. 163953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163953 X-linked intellectual disability, Raymond type 8192 Inactive 256 Deprecated entity 1 Disease Disorder OMIM 300799 E (Exact mapping: the two concepts are equivalent) Validated 776 Lujan-Fryns syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lujan-Fryns syndrome 163956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956 X-linked intellectual disability, Nascimento type 1 X-linked intellectual disability-nail dystrophy-seizures syndrome Disease Disorder ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 300860 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010461 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4512071 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD90 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#775270311 Definition X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. 163961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 X-linked cerebral-cerebellar-coloboma syndrome 1 X-linked intellectual disability, Kroes type Disease Disorder OMIM 300864 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0010464 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3275487 E (Exact mapping: the two concepts are equivalent) Validated Definition X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. 164004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164004 Middle and/or inner ear anomaly 1 Category Group of disorders MedDRA 10060957 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5816681 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 164726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation 1 AML and myelodysplastic syndromes related to radiation Disease Disorder MONDO 0015608 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2A60.20 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#1581599493 ICD-10 D46.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4707660 E (Exact mapping: the two concepts are equivalent) Validated Definition A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. 324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 Fabry disease 1 Alpha-galactosidase A deficiency Anderson-Fabry disease FD Disease Disorder MeSH D000795 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0002986 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10016016 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 5C56.01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#66996647 66996647 OMIM 301500 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010526 E (Exact mapping: the two concepts are equivalent) Validated GARD 6400 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation. 163982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163982 X-linked intellectual disability-spastic quadriparesis syndrome 8192 Inactive 256 Deprecated entity 1 Disease Disorder OMIM 309640 E (Exact mapping: the two concepts are equivalent) Validated 59 Allan-Herndon-Dudley syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Allan-Herndon-Dudley syndrome 163985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 Hyperekplexia-epilepsy syndrome 1 Disease Disorder OMIM 300607 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G25.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0010375 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5191643 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. 778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 Rett syndrome 1 Disease Disorder MONDO 0010726 E (Exact mapping: the two concepts are equivalent) Validated MeSH D015518 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0035372 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10077709 E (Exact mapping: the two concepts are equivalent) Validated OMIM 312750 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 F84.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 5696 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD90.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#201200685 201200685 Definition A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders. 163988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163988 OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type 8192 Inactive 16 Obsolete entity Malformation syndrome Disorder 1435 Xq21 microdeletion syndrome Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Xq21 microdeletion syndrome 164001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164001 Rare odontal or periodontal disorder 1 Category Group of disorders UMLS C5680435 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 72 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 Angelman syndrome 1 Malformation syndrome Disorder ICD-11 LD90.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1106558408 1106558408 MeSH D017204 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0162635 E (Exact mapping: the two concepts are equivalent) Validated OMIM 105830 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10049004 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 5810 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007113 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic neurodevelopmental disorder characterized by moderate to severe intellectual disability, microcephaly, seizures, ataxic gait and distinct abnormal facial shape. 165661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165661 Genetic pancreatic disease 1 Category Group of disorders UMLS C5680436 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 Juvenile myoclonic epilepsy 1 JME Juvenile myoclonus epilepsy Disease Disorder MeSH D020190 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0270853 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10071082 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009696 E (Exact mapping: the two concepts are equivalent) Validated OMIM 254770 E (Exact mapping: the two concepts are equivalent) Validated OMIM 604827 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 607628 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 607682 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 608816 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611136 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 611364 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613060 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 614280 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 6808 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617924 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 8A61.30 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1014397110 1014397110 ICD-10 G40.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated 98123 OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect Referred to Definition A rare epilepsy syndrome characterized by adolescence/young adulthood onset of myoclonic with or without other generalized seizure types in an otherwise healthy individual. The electroencephalogram (EEG) shows 3-5.5&nbsp;Hz generalized spike-waves and polyspike-waves. Photosensitivity is common. 165658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165658 Genetic gastro-esophageal disease 1 Category Group of disorders UMLS C5680437 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 165655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165655 Genetic intestinal disease 1 Category Group of disorders UMLS C5680438 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 165652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165652 Rare genetic gastroenterological disease 1 Category Group of disorders UMLS C5680439 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 1941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941 Juvenile absence epilepsy 1 JAE Disease Disorder ICD-11 8A61.31 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#519416529 519416529 OMIM 607631 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011876 E (Exact mapping: the two concepts are equivalent) Validated GARD 2162 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10085031 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4317339 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. 892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 Von Hippel-Lindau disease 1 Familial cerebelloretinal angiomatosis Lindau disease VHL Von Hippel-Lindau syndrome Disease Disorder OMIM 193300 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006623 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0019562 E (Exact mapping: the two concepts are equivalent) Validated GARD 7855 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A75 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1966920451 1985408165 MedDRA 10047716 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q85.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0008667 E (Exact mapping: the two concepts are equivalent) Validated Definition A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma. 164823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164823 Rare acquired aplastic anemia 1 Category Group of disorders UMLS C5680440 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 Autosomal recessive polycystic kidney disease 1 AR-PKD Disease Disorder MeSH D017044 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0085548 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10036047 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q61.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 8378 E (Exact mapping: the two concepts are equivalent) Validated OMIM 263200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617610 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0009889 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 GB8Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#854539401%2fother 1424110943 Definition A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys. 164736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736 Familial advanced sleep-phase syndrome 1 FASPS Disease Disorder OMIM 616882 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620015 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 G47.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C1858496 E (Exact mapping: the two concepts are equivalent) Validated OMIM 604348 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615224 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 7A6Z NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1359329403%2funspecified 1304946686 GARD 9242 E (Exact mapping: the two concepts are equivalent) Validated MeSH C565789 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder. 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome 1 CHARGE association Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome Hall-Hittner syndrome Malformation syndrome Disorder MONDO 0008965 E (Exact mapping: the two concepts are equivalent) Validated OMIM 214800 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10064063 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 5A61.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#768216194 52086532 MeSH D058747 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265354 E (Exact mapping: the two concepts are equivalent) Validated GARD 29 E (Exact mapping: the two concepts are equivalent) Validated 1474 Colobomatous-microphthalmia-heart disease-hearing loss syndrome Moved to Definition A multiple congenital anomaly characterized by a broad phenotype with Coloboma, Choanal atresia/stenosis, Cranial nerve dysfunction, and Characteristic external and inner ears (known as the major 4 C's). 558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 Marfan syndrome 1 MFS Disease Disorder ICD-11 LD28.01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#236564145 236564145 OMIM 610168 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C0024796 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10026829 E (Exact mapping: the two concepts are equivalent) Validated MeSH D008382 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 154700 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0007947 E (Exact mapping: the two concepts are equivalent) Validated Definition Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. 165805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165805 Familial mesial temporal lobe epilepsy with febrile seizures 8192 Inactive 256 Deprecated entity 1 Disease Disorder UMLS C5191318 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013742 E (Exact mapping: the two concepts are equivalent) Validated 36387 Genetic epilepsy with febrile seizure plus Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Genetic epilepsy with febrile seizure plus 803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803 Amyotrophic lateral sclerosis 1 ALS Charcot disease Lou Gehrig disease Disease Disorder OMIM 617892 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 8B60.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1982355687 1982355687 OMIM 614808 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615426 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615515 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616208 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616437 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0002736 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10002026 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000690 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617921 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 G12.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 105400 E (Exact mapping: the two concepts are equivalent) Validated OMIM 205250 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300857 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606070 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606640 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619133 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608030 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608031 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608627 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611895 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612069 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612577 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613435 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613954 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600795 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617839 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 5786 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0004976 E (Exact mapping: the two concepts are equivalent) Validated OMIM 619141 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. 165711 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165711 Rare abdominal surgical disease 128 Head of classification 1 Category Group of disorders UMLS C5680441 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=802 NON RARE IN EUROPE: Multiple sclerosis 8192 Inactive 1 32 Non-rare disease in Europe Disease Disorder ICD-10 G35 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 165707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165707 Syndromic urogenital tract malformation 1 Category Group of disorders UMLS C5680442 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia 1 Louis-Bar syndrome Disease Disorder GARD 5862 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.31 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1362501774 2129036552 MeSH D001260 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0004135 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008840 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10003594 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 208900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 208910 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated Definition A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments. 165704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165704 Non-syndromic urogenital tract malformation 1 Category Group of disorders UMLS C5680443 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 Familial adenomatous polyposis 1 Colorectal adenomatous polyposis FAP Familial polyposis coli Disease Disorder GARD 6408 E (Exact mapping: the two concepts are equivalent) Validated MeSH D011125 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D12.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0032580 E (Exact mapping: the two concepts are equivalent) Validated OMIM 175100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10056981 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0021055 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 2B90.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1265576634%2fother 1497254317 OMIM 608456 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616415 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated 79665 Gardner syndrome Moved to 99818 Turcot syndrome with polyposis Moved to Definition A rare intestinal polyposis syndrome characterized by the development of up to hundreds to thousands of adenomas in the large bowel. It is a multi-system disorder with important extracolonic manifestations. 165961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165961 OBSOLETE: Subcutaneous myiasis 8192 Inactive 16 Obsolete entity Category Group of disorders 99983 Cutaneous myiasis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Cutaneous myiasis 399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 Huntington disease 1 Huntington chorea Disease Disorder MONDO 0007739 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A01.10 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2132180242 2132180242 OMIM 143100 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006816 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0020179 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10070668 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G10 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 6677 E (Exact mapping: the two concepts are equivalent) Validated Definition Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. 165955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165955 Wound myiasis 1 Traumatic myiasis Disease Disorder ICD-11 1G01.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1342682193 894204357 MONDO 0015622 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0344061 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others. 501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 Lafora disease 1 EPM2 PME type 2 Progressive myoclonic epilepsy type 2 Progressive myoclonus epilepsy type 2 Disease Disorder OMIM 254780 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0009697 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020192 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0751783 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10054030 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 8214 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A61.41 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#173613583 558455490 OMIM 620681 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare, inherited, severe form of progressive myoclonus epilepsy characterized by drug-resistant epilepsy, myoclonus, and psychomotor deterioration affecting previously healthy children or adolescents. 165958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165958 Cavitary myiasis 1 Disease Disorder MONDO 0015623 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 1G01.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#615179438 615179438 UMLS C4707154 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 1G01.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1367149207%2fother 710669091 ICD-11 1G01.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1171166323 1171166323 ICD-11 1G01.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1105275196 1105275196 ICD-10 B87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. 870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 Down syndrome 1 Trisomy 21 Malformation syndrome Disorder OMIM 190685 E (Exact mapping: the two concepts are equivalent) Validated MeSH D004314 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0013080 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10044688 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q90.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q90.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q90.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q90.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 10247 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008608 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD40.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1624623908 1624623908 Definition A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects. 512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 Metachromatic leukodystrophy 1 Arylsulfatase A deficiency MLD Disease Disorder MedDRA 10067609 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 156310 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 249900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 250100 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.02 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#172326564 172326564 MeSH D007966 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0023522 E (Exact mapping: the two concepts are equivalent) Validated GARD 3230 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018868 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile, juvenile, and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems, depending on the subtype, all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive. 166011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166011 Multiple epiphyseal dysplasia, Beighton type 8192 Inactive 256 Deprecated entity 1 Multiple epiphyseal dysplasia-myopia-hearing loss syndrome Multiple epiphyseal dysplasia-myopia-deafness syndrome Disease Disorder MONDO 0007562 E (Exact mapping: the two concepts are equivalent) Validated OMIM 132450 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4304499 E (Exact mapping: the two concepts are equivalent) Validated 828 Stickler syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Stickler syndrome 166016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016 Multiple epiphyseal dysplasia, Lowry type 1 Multiple epiphyseal dysplasia with Robin phenotype Disease Disorder ICD-10 Q78.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C1832112 E (Exact mapping: the two concepts are equivalent) Validated OMIM 601560 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011109 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.61 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#2009123831 MeSH C563291 E (Exact mapping: the two concepts are equivalent) Validated Definition Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome 1 22q11DS CATCH 22 Cayler cardiofacial syndrome Conotruncal anomaly face syndrome DiGeorge sequence DiGeorge syndrome Microdeletion 22q11.2 Monosomy 22q11 Sedlackova syndrome Shprintzen syndrome Takao syndrome Velocardiofacial syndrome Malformation syndrome Disorder OMIM 125520 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 192430 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 188400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10012979 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D82.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0012236 E (Exact mapping: the two concepts are equivalent) Validated GARD 10299 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD44.N0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1868156761 1868156761 MeSH D004062 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018923 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. 232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 Sickle cell anemia 1 Homozygous hemoglobin S Homozygous sickle cell anemia SS Disease Disorder UMLS C0002895 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10040641 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D57.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 D57.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 D57.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 603903 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000755 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3A51.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1711513381 1711513381 ICD-11 3A51.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#55071409 GARD 8614 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011382 E (Exact mapping: the two concepts are equivalent) Validated Definition A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events. 165994 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165994 Pituitary resistance to thyroid hormone 8192 Inactive 256 Deprecated entity 1 PRTH Selective pituitary resistance to thyroid hormone Disease Disorder UMLS C1840364 E (Exact mapping: the two concepts are equivalent) Validated 566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536 Systemic lupus erythematosus 1 Disseminated lupus erythematosus SLE Disease Disorder OMIM 301080 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614420 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0007915 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A40.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#749596428 749596428 ICD-10 M32.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 M32.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 M32.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 M32.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D008180 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10042945 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0024141 E (Exact mapping: the two concepts are equivalent) Validated 166002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly 1 Disease Disorder ICD-11 LD24.61 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2009123831 741183905 MONDO 0015627 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4707798 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 600204 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600969 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614135 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. 534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 Oculocerebrorenal syndrome of Lowe 1 Lowe disease Lowe oculo-cerebro-renal syndrome Lowe syndrome OCRL Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency Lowe oculo-cerebro-renal dystrophy Lowe oculocerebrorenal dystrophy Malformation syndrome Disorder GARD 3295 E (Exact mapping: the two concepts are equivalent) Validated OMIM 309000 E (Exact mapping: the two concepts are equivalent) Validated MeSH D009800 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0028860 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10051707 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 5C60.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1392767390 1392767390 Definition A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. 165988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988 Diazoxide-resistant diffuse hyperinsulinism 1 Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form Clinical group Group of disorders MONDO 0015625 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5679569 E (Exact mapping: the two concepts are equivalent) Validated Definition Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy. 790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790 Retinoblastoma 1 Disease Disorder GARD 7563 E (Exact mapping: the two concepts are equivalent) Validated MeSH D012175 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0035335 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10038916 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C69.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 180200 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008380 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2D02.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1855353671 1855353671 Definition A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral. 165991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 Exercise-induced hyperinsulinism 1 EIHI Exercise-induced hyperinsulinemic hypoglycemia Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Disease Disorder UMLS C1864902 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A45 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#402589098 999935139 GARD 9932 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610021 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E16.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C538376 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012396 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. 652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 Multiple endocrine neoplasia type 1 1 MEN1 Wermer syndrome Disease Disorder ICD-11 2F7A.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1316827435 1638765741 MONDO 0007540 E (Exact mapping: the two concepts are equivalent) Validated MeSH D018761 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0025267 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10073150 E (Exact mapping: the two concepts are equivalent) Validated GARD 3829 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D44.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 131100 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients. 165985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985 Diazoxide-sensitive diffuse hyperinsulinism 1 Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form Clinical group Group of disorders MONDO 0015624 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5679570 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 Fragile X syndrome 1 FRAXA syndrome FXS FraX syndrome Martin-Bell syndrome Malformation syndrome Disorder ICD-11 LD55 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1524287677 1524287677 ICD-10 Q99.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D005600 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300624 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 311360 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C0016667 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10017324 E (Exact mapping: the two concepts are equivalent) Validated GARD 6464 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010383 E (Exact mapping: the two concepts are equivalent) Validated 449291 OBSOLETE: Symptomatic form of fragile X syndrome in female carriers Referred to Definition A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism. 3099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3099 Rheumatic fever 1 Acute rheumatic fever Disease Disorder OMIM 268240 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10039054 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0017767 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 1B40 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2058300982 ICD-11 1B41 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2058300982 ICD-10 I00 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 I01.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 I01.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D012213 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0035436 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 I01.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 I01.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 I01.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 5699 E (Exact mapping: the two concepts are equivalent) Validated Definition Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. 739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 Prader-Willi syndrome 1 Prader-Labhart-Willi syndrome Disease Disorder OMIM 176270 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615547 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D011218 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0032897 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD90.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#393773440 393773440 MedDRA 10036476 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 5575 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008300 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems. 47 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47 X-linked agammaglobulinemia 1 BTK-deficiency Bruton type agammaglobulinemia Clinical subtype Subtype of disorder MONDO 0010421 E (Exact mapping: the two concepts are equivalent) Validated GARD 1033 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537409 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0221026 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300310 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300755 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10060360 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D80.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 4A01.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#393046642 1594688835 Definition A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy. 580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 Mucopolysaccharidosis type 2 1 Hunter syndrome Iduronate 2-sulfatase deficiency MPS2 MPSII Mucopolysaccharidosis type II Disease Disorder OMIM 309900 E (Exact mapping: the two concepts are equivalent) Validated MeSH D016532 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0026705 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.31 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1056274204 1056274204 GARD 6675 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10056889 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E76.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0010674 E (Exact mapping: the two concepts are equivalent) Validated Definition A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement. 579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 Mucopolysaccharidosis type 1 1 Alpha-L-iduronidase deficiency MPS1 MPSI Mucopolysaccharidosis type I Disease Disorder MeSH D008059 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E76.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 5C56.30 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1539226250 1539226250 GARD 10335 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0001586 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0023786 E (Exact mapping: the two concepts are equivalent) Validated OMIM 607014 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 607015 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 607016 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10056886 E (Exact mapping: the two concepts are equivalent) Validated Definition Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype. 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 Wilson disease 1 Hepatolenticular degeneration Disease Disorder GARD 7893 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006527 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0019202 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10019819 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C64.00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#468161208 468161208 ICD-10 E83.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 277900 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010200 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body. 163209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209 Non-syndromic cerebral malformation due to abnormal neuronal migration 1 Brain malformation due to abnormal neuronal migration Category Group of disorders UMLS C5679571 E (Exact mapping: the two concepts are equivalent) Validated 1139 OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 X-linked retinoschisis 1 X-linked juvenile retinoschisis XLRS Malformation syndrome Disorder ICD-10 Q14.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 9B73.11 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2074506458 2074506458 GARD 4690 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0271091 E (Exact mapping: the two concepts are equivalent) Validated OMIM 312700 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010725 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages. 163528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163528 OBSOLETE: Acute cutaneous lupus erythematosus 8192 Inactive 16 Obsolete entity Category Group of disorders 535 Rare cutaneous lupus erythematosus Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Rare cutaneous lupus erythematosus 383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=383 X-linked mixed deafness with perilymphatic gusher 8192 Inactive 256 Deprecated entity 1 Conductive deafness with stapes fixation DFNX2 Nance deafness X-linked deafness type 2 X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural deafness X-linked mixed conductive and sensorineural hearing loss X-linked stapes gusher syndrome Clinical subtype Subtype of disorder UMLS C1844678 E (Exact mapping: the two concepts are equivalent) Validated OMIM 304400 E (Exact mapping: the two concepts are equivalent) Validated 90625 Rare X-linked non-syndromic sensorineural deafness type DFN Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked non-syndromic sensorineural deafness type DFN 163525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163525 Subacute cutaneous lupus erythematosus 1 Disease Disorder ICD-11 EB50 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#192274757 192274757 MONDO 0015573 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10057903 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 L93.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0024140 E (Exact mapping: the two concepts are equivalent) Validated Definition A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced. 827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 Stargardt disease 1 Fundus flavimaculatus Stargardt 1 Disease Disorder MeSH D000080362 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0271093 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062766 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 H35.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0019353 E (Exact mapping: the two concepts are equivalent) Validated GARD 181 E (Exact mapping: the two concepts are equivalent) Validated OMIM 248200 E (Exact mapping: the two concepts are equivalent) Validated OMIM 600110 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 603786 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 9B70 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1060480722 1690038580 Definition A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. 163582 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163582 Rare bacterial infectious disease 1 Category Group of disorders UMLS C5681850 E (Exact mapping: the two concepts are equivalent) Validated 35065 OBSOLETE: Idiopathic severe pneumococcemia Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 163531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163531 Chronic cutaneous lupus erythematosus 1 Clinical group Group of disorders MedDRA 10057929 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EB51 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1849568465 1849568465 UMLS C0024138 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015574 E (Exact mapping: the two concepts are equivalent) Validated Definition A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis. 906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 Wiskott-Aldrich syndrome 1 Eczema-thrombocytopenia-immunodeficiency syndrome WAS Disease Disorder MeSH D014923 E (Exact mapping: the two concepts are equivalent) Validated GARD 7895 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010518 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3B62.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1410128892%2fother 168952525 MedDRA 10047992 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D82.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 301000 E (Exact mapping: the two concepts are equivalent) Validated OMIM 600903 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0043194 E (Exact mapping: the two concepts are equivalent) Validated Definition A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. 904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 Williams syndrome 1 Deletion 7q11.23 Monosomy 7q11.23 Williams-Beuren syndrome Malformation syndrome Disorder ICD-11 LD44.70 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1458081087 1644383468 MONDO 0008678 E (Exact mapping: the two concepts are equivalent) Validated GARD 7891 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q93.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MedDRA 10049644 E (Exact mapping: the two concepts are equivalent) Validated OMIM 194050 E (Exact mapping: the two concepts are equivalent) Validated MeSH D018980 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0175702 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia. 162521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162521 OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly 8192 Inactive 16 Obsolete entity OBSOLETE: Apertura pyriformis with holoprosencephaly Malformation syndrome Disorder 280200 Microform holoprosencephaly Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Microform holoprosencephaly 280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 Wolf-Hirschhorn syndrome 1 4p- syndrome Distal deletion 4p Distal monosomy 4p Telomeric deletion 4p Malformation syndrome Disorder ICD-11 LD44.41 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1460916074 1337401724 MONDO 0008684 E (Exact mapping: the two concepts are equivalent) Validated GARD 7896 E (Exact mapping: the two concepts are equivalent) Validated MeSH D054877 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1956097 E (Exact mapping: the two concepts are equivalent) Validated OMIM 194190 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10050361 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q93.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated 85291 X-linked intellectual disability, Wittwer type Moved to 98788 Pitt-Rogers-Danks syndrome Moved to Definition A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. 162516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516 Isolated congenital nasal pyriform aperture stenosis 1 Isolated apertura pyriformis stenosis Isolated nasal pyriform aperture hypoplasia Malformation syndrome Disorder MONDO 0015568 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10089480 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3839990 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q30.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LA70.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#484839707%2fother 715305088 Definition A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties. 15 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 Achondroplasia 1 Disease Disorder ICD-11 LD24.00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#24224082 24224082 UMLS C0001080 E (Exact mapping: the two concepts are equivalent) Validated OMIM 100800 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10000452 E (Exact mapping: the two concepts are equivalent) Validated GARD 8173 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007037 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000130 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. 96 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 Ataxia with vitamin E deficiency 1 AVED Ataxia with isolated vitamin E deficiency Familial isolated vitamin E deficiency Friedreich-like ataxia Isolated vitamin E deficiency Disease Disorder MONDO 0010188 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A03.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#980686666 1011034743 UMLS C1848533 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10088735 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 277460 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535393 E (Exact mapping: the two concepts are equivalent) Validated GARD 8595 E (Exact mapping: the two concepts are equivalent) Validated Definition A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. 162526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526 Isolated congenital auditory ossicle malformation 1 Congenital auditory ossicle malformation without external ear abnormality Morphological anomaly Disorder MONDO 0015570 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q16.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MedDRA 10010341 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA22.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#238760163 238760163 UMLS C0158587 E (Exact mapping: the two concepts are equivalent) Validated Definition Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance. 101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 Dentatorubral pallidoluysian atrophy 1 DRPLA Dentatorubropallidoluysian atrophy Naito-Oyanagi disease Disease Disorder MONDO 0007435 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A01.12 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1198818955 1198818955 MedDRA 10075298 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0751781 E (Exact mapping: the two concepts are equivalent) Validated OMIM 125370 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 5643 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. 783 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 Rubinstein-Taybi syndrome 1 Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Malformation syndrome Disorder MONDO 0019188 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0035934 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10039281 E (Exact mapping: the two concepts are equivalent) Validated MeSH D012415 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 692585833 OMIM 180849 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610543 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613684 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 7593 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics. 163649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome 1 Spondyloepiphyseal dysplasia, Nishimura type Disease Disorder MONDO 0011261 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 523290419 UMLS C4305147 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. 631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631 Non-acquired isolated growth hormone deficiency 1 Congenital IGHD Congenital isolated GH deficiency Congenital isolated growth hormone deficiency Disease Disorder ICD-10 E23.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 173100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 262400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 262650 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300123 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 307200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612781 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10035083 E (Exact mapping: the two concepts are equivalent) Validated GARD 12556 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5679572 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0000050 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A61.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#768216194 936501166 Definition A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature. 276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276 T-B+ severe combined immunodeficiency due to gamma chain deficiency 1 SCIDX1 T-B+ SCID due to gamma chain deficiency T-B+ severe combined immunodeficiency, X-linked Disease Disorder GARD 5618 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4707334 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D81.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0010315 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#963193284 893971384 OMIM 300400 E (Exact mapping: the two concepts are equivalent) Validated Definition Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. 163654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome 1 SED-BDS Tattoo dysplasia Spondyloepiphyseal dysplasia, Cantu type Disease Disorder UMLS C2673649 E (Exact mapping: the two concepts are equivalent) Validated MeSH C567128 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012716 E (Exact mapping: the two concepts are equivalent) Validated GARD 10629 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 611717 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 897226700 Definition Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). 481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 Kennedy disease 1 SBMA X-linked BSMA X-linked bulbospinal amyotrophy X-linked bulbospinal muscular atrophy X-linked spinal and bulbar muscular atrophy SMAX1 Disease Disorder MONDO 0010735 E (Exact mapping: the two concepts are equivalent) Validated GARD 6818 E (Exact mapping: the two concepts are equivalent) Validated OMIM 313200 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1839259 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10068600 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G12.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 8B61.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#870128735 1604214898 Definition Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. 664 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 Ornithine transcarbamylase deficiency 1 OCT deficiency OTC deficiency Ornithine carbamoyltransferase deficiency Disease Disorder MONDO 0010703 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268542 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10052450 E (Exact mapping: the two concepts are equivalent) Validated OMIM 311250 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020163 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 8391 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.AY NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1889990301%2fother 1822444026 Definition A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae. 163668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 Spondyloepiphyseal dysplasia, MacDermot type 512 Historical entity 1 Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome Malformation syndrome Disorder MONDO 0008472 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 800575171 ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 184000 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4305149 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes including lumbar lordosis and platyspondyly and sensorineural deafness. Adult-onset myopia and retinal detachment have been reported in some patients. Additional clinical features may include clinodactyly, pes planus and prominent heel. There have been no further descriptions in the literature since 1987. 163673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163673 Spondyloepiphyseal dysplasia, Byers type 8192 Inactive 256 Deprecated entity 1 Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome Disease Disorder OMIM 183850 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1866727 E (Exact mapping: the two concepts are equivalent) Validated 93284 Spondyloepiphyseal dysplasia tarda Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepiphyseal dysplasia tarda 163662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662 Spondyloepiphyseal dysplasia, Reardon type 512 Historical entity 1 Disease Disorder UMLS C4305148 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010902 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 600561 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 1019322569 Definition A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, vertebral abnormalities (including irregular vertebral endplates especially in the dorsal spine, lumbar lordosis, spondylolysis, spondylolisthesis), femoral abnormalities (including small femoral capital epiphyses, flat femoral head and subluxation and sloping acetabulum) and cervical spine abnormalities typically manifest as atlantoaxial subluxation and instability associated with os odontoideum. Affected individuals present with severe neurological complications following minor trauma due to cervical instability, including quadriparesis, brisk reflexes, clonus, spasticity, bulbar palsy and seizures. Additional clinical features may include mild joint laxity, short, clubbed fingers, wasting of small hand muscles, tongue fasciculations and progressive breathing difficulty. There have been no further descriptions in the literature since 1994. 394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 Homocystinuria due to cystathionine beta-synthase deficiency 1 Cystathionine beta-synthase-deficient homocystinuria Cystathionine beta-synthase deficiency Homocystinuria due to CBS deficiency CBS-deficient HCU Classical homocystinuria Disease Disorder MONDO 0009352 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0751202 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10071093 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 236200 E (Exact mapping: the two concepts are equivalent) Validated GARD 6667 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.B NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#67872354 1480749127 Definition A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS). 163665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 Spondyloepiphyseal dysplasia tarda, Kohn type 512 Historical entity 1 Disease Disorder MONDO 0010073 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4304888 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 758715188 OMIM 271620 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficiency. Typical radiographic features include platyspondyly, abnormal lumbar vertebral bodies with anterior tongue-like protrusions, and the presence of degenerative large joint changes in the shoulder, hip and knee joints manifesting as narrowing of the joint spaces and irregularities of the articulate surfaces. Dens epistropheus may be absent. There have been no further descriptions in the literature since 1987. 508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 Donohue syndrome 1 Malformation syndrome Disorder GARD 6885 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265344 E (Exact mapping: the two concepts are equivalent) Validated OMIM 246200 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E34.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated MedDRA 10081896 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009517 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A44 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1736778 620744510 MeSH D056731 E (Exact mapping: the two concepts are equivalent) Validated Definition A subtype of <i>INSR</i>-related severe insulin resistance characterized by severe intrauterine growth retardation, postnatal failure to thrive, dysmorphic features, extreme insulin resistance, fluctuating blood glucose levels. The life expectancy is very short, with death usually occurring during infancy due to metabolic complications, cardiomyopathy and/or infections. 163591 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163591 Rare mycosis 1 Category Group of disorders UMLS C5680444 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436 Hypophosphatasia 1 HPP Phosphoethanolaminuria Rathbun disease Disease Disorder MeSH D007014 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0020630 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10049933 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E83.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 146300 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 241500 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 241510 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0018570 E (Exact mapping: the two concepts are equivalent) Validated GARD 6734 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C64.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#108919913 422012968 Definition A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood. 163596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 Hemoglobin Bart's fetalis syndrome 1 Alpha-thalassemia hydrops fetalis Alpha-thalassemia major Hemoglobin Bart's hydrops fetalis Homozygous alpha0-thalassemia Hemoglobin Bart's disease Haemoglobin Bart's hydrops fetalis Hb Bart's hydrops fetalis syndrome HBHF BHFS Haemoglobin Bart's disease Disease Disorder UMLS C0272005 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D56.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 3A50.03 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1859849042 1859849042 OMIM 236750 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MONDO 0015579 E (Exact mapping: the two concepts are equivalent) Validated Definition A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. 163585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163585 Rare viral disease 1 Category Group of disorders UMLS C5680445 E (Exact mapping: the two concepts are equivalent) Validated 344 OBSOLETE: Arbovirus fever Referred to 35061 OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes Referred to 35064 OBSOLETE: Lethal idiopathic viral infection Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 Hypochondroplasia 1 Disease Disorder GARD 6724 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH C562937 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1930265486 1930265486 UMLS C0410529 E (Exact mapping: the two concepts are equivalent) Validated OMIM 146000 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10020967 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007793 E (Exact mapping: the two concepts are equivalent) Validated Definition A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. 163588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163588 Rare parasitic disease 1 Category Group of disorders UMLS C5680446 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 Hypophosphatemic rickets 1 Clinical group Group of disorders UMLS C1704375 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10060873 E (Exact mapping: the two concepts are equivalent) Validated GARD 6735 E (Exact mapping: the two concepts are equivalent) Validated MeSH D063730 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C63.22 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1010293846 1010293846 MONDO 0000044 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities. 163637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163637 Rare disorder related with pregnancy, childbirth and puerperium 1 Category Group of disorders UMLS C5680447 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 104 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 Leber hereditary optic neuropathy 1 LHON Leber optic atrophy Disease Disorder MONDO 0010788 E (Exact mapping: the two concepts are equivalent) Validated OMIM 619382 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 H47.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 308905 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 535000 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0917796 E (Exact mapping: the two concepts are equivalent) Validated GARD 6870 E (Exact mapping: the two concepts are equivalent) Validated MeSH D029242 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C73.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#601991549%2fother 1018428959 Definition A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy. 163631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 Bile acid synthesis defect with cholestasis and malabsorption 1 Category Group of disorders UMLS C5681851 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C52.11 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1295299670 1295299670 This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 Hydrocephalus with stenosis of the aqueduct of Sylvius 1 Bickers-Adams syndrome HSAS X-linked HSAS X-linked acqueductal stenosis X-linked hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius Clinical subtype Subtype of disorder ICD-11 LA04.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1284135636 1284135636 MONDO 0010611 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536078 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q03.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated UMLS C0265216 E (Exact mapping: the two concepts are equivalent) Validated OMIM 307000 E (Exact mapping: the two concepts are equivalent) Validated GARD 434 E (Exact mapping: the two concepts are equivalent) Validated Definition A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis. 163634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 Maffucci syndrome 1 Multiple Enchondromatosis, Maffucci Type Multiple Enchondromatosis type II Enchondromatosis Spranger type II Disease Disorder MONDO 0013808 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10083007 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 548780091 GARD 6958 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0024454 E (Exact mapping: the two concepts are equivalent) Validated OMIM 614569 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated Definition A rare disorder characterized by multiple enchondromatosis associated with multiple (dark, irregularly shaped) hemangiomas. Less commonly, lymphangiomas are also reported. 163717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 Familial mesial temporal lobe epilepsy 1 FLTLE Disease Disorder MONDO 0015586 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A61.4Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#91180764%2fother 1309474615 OMIM 611630 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614417 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615697 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 G40.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4749273 E (Exact mapping: the two concepts are equivalent) Validated Definition Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. 163708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163708 Cryptogenic late-onset epileptic spasms 1 Late-onset infantile spasms Disease Disorder MONDO 0015585 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A61.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1612372804%2fother 457378168 ICD-10 G40.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4755310 E (Exact mapping: the two concepts are equivalent) Validated Definition Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. 636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 Neurofibromatosis type 1 1 Nonmosaic neurofibromatosis type 1 Von Recklinghausen disease Nonmosaic NF1 Disease Disorder MeSH D009456 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10029270 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q85.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated UMLS C0027831 E (Exact mapping: the two concepts are equivalent) Validated GARD 7866 E (Exact mapping: the two concepts are equivalent) Validated OMIM 162200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 162210 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613675 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0018975 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2D.10 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#337970533 337970533 3444 Watson syndrome Moved to 2029 Multiple non-ossifying fibromatosis Moved to 79428 OBSOLETE: Familial segmental neurofibromatosis Referred to 79429 OBSOLETE: Familial spinal neurofibromatosis Referred to Definition Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. 163703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703 Febrile infection-related epilepsy syndrome 1 AERRPS Acute encephalitis with refractory repetitive partial seizures Acute non-herpetic encephalitis with severe refractory status epilepticus DESC syndrome Devastating epileptic encephalopathy in school-aged children FIRES Fever-induced refractory epileptic encephalopathy in school-aged children Disease Disorder MedDRA 10079438 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015584 E (Exact mapping: the two concepts are equivalent) Validated GARD 11005 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A63.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1376414432%2fother 1316435973 UMLS C4049262 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature. 649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 Norrie disease 1 Atrophia bulborum hereditaria Episkopi blindness Norrie-Warburg disease Malformation syndrome Disorder ICD-11 LD21.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#620858597%2fother 676214590 ICD-10 H35.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 312550 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C537849 E (Exact mapping: the two concepts are equivalent) Validated OMIM 310600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0266526 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10069760 E (Exact mapping: the two concepts are equivalent) Validated GARD 7224 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010691 E (Exact mapping: the two concepts are equivalent) Validated 1852 OBSOLETE: X-linked retinal dysplasia Referred to Definition A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. 163727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1 Rolandic epilepsy exercise-induced dystonia Disease Disorder ICD-11 8A61.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1612372804%2fother 1311096281 MeSH C535499 E (Exact mapping: the two concepts are equivalent) Validated OMIM 608105 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1842531 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011970 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. 163721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 Rolandic epilepsy-speech dyspraxia syndrome 1 Disease Disorder MONDO 0015587 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A61.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1612372804%2fother 288052868 ICD-10 G40.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 245570 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 300643 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C4707308 E (Exact mapping: the two concepts are equivalent) Validated Definition Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. 163684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome 1 Disease Disorder GARD 12471 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013391 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 613724 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4518784 E (Exact mapping: the two concepts are equivalent) Validated Definition Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. 163681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 CNTNAP2-related developmental and epileptic encephalopathy 1 CDFE syndrome CDFES Cortical dysplasia-focal epilepsy syndrome CNTNAP2-related DEE Disease Disorder UMLS C5575702 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q04.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 610042 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012400 E (Exact mapping: the two concepts are equivalent) Validated 221150 OBSOLETE: Pitt-Hopkins-like syndrome Referred to Definition A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common. 379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 Chronic granulomatous disease 1 CGD Chronic septic granulomatosis Disease Disorder GARD 6100 E (Exact mapping: the two concepts are equivalent) Validated OMIM 233690 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 233700 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 233710 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 306400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613960 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D006105 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618935 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0018203 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10008906 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018305 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D71 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 4A00.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#808756909%2fother 1329764681 Definition A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. 163678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163678 OBSOLETE: Unclassified spondylometaphyseal dysplasia 8192 Inactive 16 Obsolete entity Disease Disorder 254 Spondylometaphyseal dysplasia Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Spondylometaphyseal dysplasia 16 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16 Blue cone monochromatism 1 Atypical X-linked achromatopsia Blue cone monochromacy Color blindness, blue monocone monochromatic type S cone monochromacy S cone monochromatism X-linked incomplete achromatopsia Disease Disorder OMIM 303700 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010563 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536238 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0339537 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 H53.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 917 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 9B70 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1060480722 215497582 Definition Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia. 644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 NARP syndrome 1 Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome Neuropathy-ataxia-retinitis pigmentosa syndrome Disease Disorder OMIM 551500 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1328349 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537396 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E88.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 262 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062940 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C73.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2089784682 2089784682 MONDO 0010794 E (Exact mapping: the two concepts are equivalent) Validated Definition A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. 163699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163699 Alveolar soft tissue sarcoma 1 Alveolar soft part sarcoma ASPS Disease Disorder GARD 5654 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011655 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0206657 E (Exact mapping: the two concepts are equivalent) Validated MeSH D018234 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10001882 E (Exact mapping: the two concepts are equivalent) Validated OMIM 606243 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C49.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated Definition A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epithelioid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance. 637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 Full NF2-related schwannomatosis 1 Nonmosaic neurofibromatosis type 2 Nonmosaic NF2-related schwannomatosis Full NF2 Full neurofibromatosis type 2 Disease Disorder ICD-10 Q85.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D016518 E (Exact mapping: the two concepts are equivalent) Validated OMIM 101000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C0027832 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2D.11 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#14808714 14808714 Definition Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. 163696 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 Action myoclonus-renal failure syndrome 1 AMRF Progressive myoclonus epilepsy type 4 EPM4 Myoclonus-nephropathy syndrome Progressive myoclonic epilepsy type 4 Disease Disorder UMLS C0751779 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009699 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Not yet validated ICD-11 GB4Z NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#658360080%2funspecified 2057902429 OMIM 254900 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. 181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 X-linked hypohidrotic ectodermal dysplasia 1 Christ-Siemens-Touraine syndrome XHED Etiological subtype Subtype of disorder OMIM 305100 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD27.02 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#673167184 941793098 MeSH D053358 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0162359 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q82.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 10427 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010585 E (Exact mapping: the two concepts are equivalent) Validated This disease is described under Hypohidrotic ectodermal dysplasia 163693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 2p21 microdeletion syndrome 1 2p21 deletion syndrome Del(2)(p21) Monosomy 2p21 Disease Disorder MONDO 0015583 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4304537 E (Exact mapping: the two concepts are equivalent) Validated OMIM 606407 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD44.21 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1610083208 1956669459 Definition The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. 163690 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 Hypotonia-cystinuria syndrome 1 HCS Disease Disorder MedDRA 10083099 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1848030 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C60.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1631611896%2fother 1742079513 MeSH C564710 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011669 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 606407 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages. 337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 Fibrodysplasia ossificans progressiva 1 FOP Myositis ossificans progressiva Stone man syndrome Disease Disorder ICD-11 FB31.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2102976705 2102976705 GARD 6445 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007606 E (Exact mapping: the two concepts are equivalent) Validated OMIM 135100 E (Exact mapping: the two concepts are equivalent) Validated MeSH D009221 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M61.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0016037 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10068715 E (Exact mapping: the two concepts are equivalent) Validated Definition Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. 3444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3444 Watson syndrome 8192 Inactive 256 Deprecated entity 1 Pulmonic stenosis with 'café-au-lait' spots Malformation syndrome Disorder OMIM 193520 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0553586 E (Exact mapping: the two concepts are equivalent) Validated 636 Neurofibromatosis type 1 Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Neurofibromatosis type 1 377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 Gorlin syndrome 1 Basal cell nevus syndrome Gorlin-Goltz syndrome NBCCS Nevoid basal cell carcinoma syndrome Malformation syndrome Disorder OMIM 109400 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0004779 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062804 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007187 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2D.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1012745138 1012745138 ICD-10 C44.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D001478 E (Exact mapping: the two concepts are equivalent) Validated GARD 7166 E (Exact mapping: the two concepts are equivalent) Validated 2081 Cerebral gigantism-jaw cysts syndrome Moved to Definition A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. 648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Noonan syndrome 1 Malformation syndrome Disorder UMLS C0028326 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10029748 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.15 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1044395354 1044395354 ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 10955 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618624 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619745 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618499 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0018997 E (Exact mapping: the two concepts are equivalent) Validated OMIM 619087 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D009634 E (Exact mapping: the two concepts are equivalent) Validated OMIM 163950 E (Exact mapping: the two concepts are equivalent) Validated OMIM 605275 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609942 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610733 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611553 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613224 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613706 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615355 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616559 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616564 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. 281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 Monosomy 5p syndrome 1 Cri du chat syndrome Deletion 5p Malformation syndrome Disorder OMIM 123450 E (Exact mapping: the two concepts are equivalent) Validated MeSH D003410 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0010314 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10011385 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q93.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 6213 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007404 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD44.51 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1109271336 620584190 Definition A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism. 752 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 1 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Disease Disorder UMLS C0268296 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E29.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD2A.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#749282256 887793448 OMIM 264300 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009916 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537805 E (Exact mapping: the two concepts are equivalent) Validated GARD 5659 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare difference of sex development characterized by 17-beta hydroxysteroid dehydrogenase 3 deficiency that affects individuals with a 46,XY karyotype leading to underandrogenization of the genitalia. 214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214 Cystinuria 1 Cystinuria-lysinuria syndrome Disease Disorder ICD-10 E72.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0009067 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C60.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1237620397 1237620397 MeSH D003555 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0010691 E (Exact mapping: the two concepts are equivalent) Validated OMIM 220100 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10011778 E (Exact mapping: the two concepts are equivalent) Validated GARD 6237 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones. 510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 Lesch-Nyhan syndrome 1 HPRT complete deficiency HPRT deficiency grade IV Hypoxanthine guanine phosphoribosyltransferase complete deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV Disease Disorder MONDO 0010298 E (Exact mapping: the two concepts are equivalent) Validated MeSH D007926 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0023374 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10057589 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300322 E (Exact mapping: the two concepts are equivalent) Validated OMIM 308950 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) Validated ICD-10 E79.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 5C55.01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1886495906 1886495906 GARD 7226 E (Exact mapping: the two concepts are equivalent) Validated Definition A form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction, severe motor dysfunction, intellectual disability, and self-injurious behaviour (SIB). 524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524 Li-Fraumeni syndrome 1 Disease Disorder ICD-10 C97 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 6902 E (Exact mapping: the two concepts are equivalent) Validated MeSH D016864 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0085390 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10066795 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2B51.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1210287093%2fother 1968061860 OMIM 609265 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 151623 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0018875 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers. 699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 Pearson syndrome 1 Pearson marrow-pancreas syndrome PMPS Disease Disorder GARD 7343 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3A72.01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#789053868 452521132 MONDO 0010797 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0342784 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062941 E (Exact mapping: the two concepts are equivalent) Validated OMIM 557000 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D64.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare mitochondrial oxidative phosphorylation disorder due to large-scale single deletion of mitochondrial DNA characterized by hyporegenerative anemia in early infancy with vacuolization of bone marrow precursors, lactic acidosis and multi-organ dysfunctions such as exocrine pancreatic dysfunction, and renal tubulopathy. 640 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640 Hereditary neuropathy with liability to pressure palsies 1 Current pressure-sensitive neuropathy HNPP Heterozygous microdeletion 17p11.2p12 Potato-grubbing palsy Tomaculous neuropathy Tulip-bulb digger's palsy Malformation syndrome Disorder MeSH C536965 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0393814 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10069382 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G60.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 162500 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C20.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1538134578%2fother 2126843932 MONDO 0008087 E (Exact mapping: the two concepts are equivalent) Validated GARD 5221 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people. 60 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 Alpha-1-antitrypsin deficiency 1 Alpha1-antitrypsin deficiency Alpha-1-proteinase inhibitor deficiency Disease Disorder GARD 5784 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613490 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated ICD-10 E88.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 5C5A E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#824872160 824872160 MeSH D019896 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10001806 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013282 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0221757 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis. 895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 Waardenburg syndrome type 2 1 WS2 Waardenburg syndrome type II Clinical subtype Subtype of disorder OMIM 619947 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 193510 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600193 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606662 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611584 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 EC23.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#143807416%2fother 746815303 MONDO 0019517 E (Exact mapping: the two concepts are equivalent) Validated GARD 5520 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536463 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2700265 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated 352740 Ocular albinism with congenital sensorineural deafness Moved to Definition An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. 896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 Waardenburg syndrome type 3 1 Klein-Waardenburg syndrome WS3 Waardenburg syndrome with limb anomalies Waardenburg syndrome type III Clinical subtype Subtype of disorder OMIM 148820 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0079661 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007862 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EC23.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#143807416%2fother 847608197 GARD 5523 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. 3140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3140 NON RARE IN EUROPE: Schizophrenia 8192 Inactive 1 32 Non-rare disease in Europe Disease Disorder This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 Townes-Brocks syndrome 1 Sensorineural hearing loss with imperforate anus and hypoplastic thumbs REAR syndrome Renal-ear-anal-radial syndrome Sensorineural deafness with imperforate anus and hypoplastic thumbs TBS Townes syndrome Imperforate anus-hand, foot and ear anomalies syndrome Malformation syndrome Disorder OMIM 107480 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C536974 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265246 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617466 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 7784 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007142 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 66554749 Definition A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. 894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 Waardenburg syndrome type 1 1 WS1 Waardenburg syndrome type I Clinical subtype Subtype of disorder OMIM 193500 E (Exact mapping: the two concepts are equivalent) Validated GARD 5519 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EC23.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#143807416%2fother 547536187 MONDO 0008670 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1847800 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. 682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 Hyperkalemic periodic paralysis 1 Adynamia episodica hereditaria Familial hyperPP Familial hyperkalemic periodic paralysis Gamstorp disease Gamstorp episodic adynamy HYPP HyperKPP HyperPP Hyperkalemic PP Primary hyperPP Primary hyperkalemic periodic paralysis Disease Disorder OMIM 170500 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020513 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0238357 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C74.11 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1308452752 1308452752 MONDO 0008224 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G72.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 195 E (Exact mapping: the two concepts are equivalent) Validated 680 Normokalemic periodic paralysis Moved to Definition A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. 800 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 Schwartz-Jampel syndrome 1 Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Myotonic chondrodystrophy Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Osteochondromuscular dystrophy SJS SJS1 Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome Disease Disorder ICD-11 8C71.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1725668060 1725668060 UMLS C0036391 E (Exact mapping: the two concepts are equivalent) Validated OMIM 255800 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated ICD-10 G71.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MedDRA 10082378 E (Exact mapping: the two concepts are equivalent) Validated GARD 250 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009717 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). 706 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=706 NON RARE IN EUROPE: Patent arterial duct 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Patent ductus arteriosus NON RARE IN EUROPE: Persistent patency of the arterial duct Morphological anomaly Disorder MedDRA 10034130 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q25.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 Diastrophic dysplasia 1 Diastrophic dwarfism Disease Disorder OMIM 222600 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.03 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1681550532 1681550532 MeSH C536170 E (Exact mapping: the two concepts are equivalent) Validated GARD 6275 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0220726 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0009107 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10081228 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare osteochondrodysplasia characterized by shortened limbs, normal sized head, short stature with short extremities (final adult height is 120cm +/- 20cm), spinal deformities and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). The name indicates the ''twisted'' appearance of the spine and limbs in severe forms that is peculiar of this condition. 673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673 Malaria 1 Disease Disorder ICD-10 B54 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B51.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B51.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B52.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B52.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B52.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B53.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B53.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B53.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 6961 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 1F40 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#579583286 579583286 MONDO 0005136 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B50.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B50.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B50.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B51.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 1F42 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#862789727 862789727 ICD-11 1F41 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1203794080 1203794080 ICD-11 1F43 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1168452782 1168452782 ICD-11 1F44 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1260563068 1260563068 ICD-11 1F45 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#633896543 633896543 OMIM 611162 E (Exact mapping: the two concepts are equivalent) Validated MeSH D008288 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0024530 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10025487 E (Exact mapping: the two concepts are equivalent) Validated Definition A life-threatening parasitic disease caused by <i>Plasmodium</i> (<i>P. </i>) parasites that are transmitted by <i>Anophles</i> mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting. 681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 Hypokalemic periodic paralysis 1 Westphall disease Disease Disorder MeSH D020514 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0238358 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C74.10 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1494773635 1494773635 ICD-10 G72.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 6729 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008223 E (Exact mapping: the two concepts are equivalent) Validated OMIM 170400 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613345 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels. 126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126 Blepharophimosis-ptosis-epicanthus inversus syndrome 1 BPES Malformation syndrome Disorder UMLS C0220663 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10081258 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007201 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q10.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD21.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#620858597%2fother 1374618555 OMIM 110100 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562419 E (Exact mapping: the two concepts are equivalent) Validated 261559 OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome Referred to 261572 OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Referred to 261579 OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations Referred to Definition A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). 107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 BOR syndrome 1 Branchiootorenal syndrome Branchiootorenal spectrum disorder Melnick-Fraser syndrome Malformation syndrome Disorder MeSH D019280 E (Exact mapping: the two concepts are equivalent) Validated OMIM 113650 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610896 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0265234 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10071135 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 504227287 GARD 10147 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007029 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). 774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 Hereditary hemorrhagic telangiectasia 1 HHT Rendu-Osler disease Rendu-Osler-Weber disease Disease Disorder ICD-11 LA90.00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#714406192 714406192 MeSH D013683 E (Exact mapping: the two concepts are equivalent) Validated OMIM 600376 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610655 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615506 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 I78.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0019180 E (Exact mapping: the two concepts are equivalent) Validated GARD 6626 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0039445 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10019883 E (Exact mapping: the two concepts are equivalent) Validated OMIM 187300 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 175050 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated Definition An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations. 794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 Saethre-Chotzen syndrome 1 ACS3 Acrocephalosyndactyly type 3 SCS Malformation syndrome Disorder OMIM 180750 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LD24.GY NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1908604930%2fother 2109857109 MONDO 0007042 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0175699 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 101400 E (Exact mapping: the two concepts are equivalent) Validated GARD 7598 E (Exact mapping: the two concepts are equivalent) Validated 1219 Aurocephalosyndactyly Moved to 3106 Robinow-Sorauf syndrome Moved to Definition A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations. 710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 Pfeiffer syndrome 1 ACS5 Acrocephalosyndactyly type 5 Malformation syndrome Disorder MONDO 0007043 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.G0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1075159878 1075159878 MedDRA 10082289 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 101600 E (Exact mapping: the two concepts are equivalent) Validated GARD 7380 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0220658 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538582 E (Exact mapping: the two concepts are equivalent) Validated Definition An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations. 2869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 Peutz-Jeghers syndrome 1 Hamartomatous intestinal polyposis PJS Disease Disorder MONDO 0008280 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q85.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 175200 E (Exact mapping: the two concepts are equivalent) Validated GARD 7378 E (Exact mapping: the two concepts are equivalent) Validated MeSH D010580 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0031269 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10034764 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2D.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#969253189 969253189 Definition A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies. 862 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=862 NON RARE IN EUROPE: Hereditary essential tremor 8192 Inactive 1 32 Non-rare disease in Europe Disease Disorder ICD-10 G25.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 WAGR syndrome 1 Del(11)(p13) Deletion 11p13 Monosomy 11p13 Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Malformation syndrome Disorder ICD-11 LD2A.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#565049612%2fother 1858307812 MONDO 0008681 E (Exact mapping: the two concepts are equivalent) Validated MeSH D017624 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0206115 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C64 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 5528 E (Exact mapping: the two concepts are equivalent) Validated OMIM 194072 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612469 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. 912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 Zellweger syndrome 1 Cerebrohepatorenal syndrome ZS Severe peroxisome biogenesis disorder-Zellweger spectrum disorder Severe PBD-ZSD Disease Disorder OMIM 214100 E (Exact mapping: the two concepts are equivalent) Validated OMIM 214110 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614859 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614862 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614866 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614870 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614872 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0019609 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617370 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MedDRA 10053684 E (Exact mapping: the two concepts are equivalent) Validated GARD 7917 E (Exact mapping: the two concepts are equivalent) Validated OMIM 614876 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614882 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614883 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614886 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614887 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0043459 E (Exact mapping: the two concepts are equivalent) Validated MeSH D015211 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 5C57.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1919322367 226023718 1271 Bowen syndrome Moved to Definition A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. 50 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 Aicardi syndrome 1 Agenesis of corpus callosum with chorioretinal abnormality Disease Disorder GARD 5764 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10054935 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q04.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 304050 E (Exact mapping: the two concepts are equivalent) Validated MeSH D058540 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0175713 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010568 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD20.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1800958996%2fother 2057245946 Definition A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females. 53 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 Albers-Schönberg osteopetrosis 1 Osteopetrosis autosomal dominant type 2 Malformation syndrome Disorder UMLS C3179239 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 166600 E (Exact mapping: the two concepts are equivalent) Validated GARD 383 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008156 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1498426606 2139982581 Definition A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). 14 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 Abetalipoproteinemia 1 Bassen-Kornzweig disease Homozygous familial hypobetalipoproteinemia Disease Disorder MedDRA 10083851 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008692 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000012 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0000744 E (Exact mapping: the two concepts are equivalent) Validated OMIM 200100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Not yet validated ICD-10 E78.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 615558 BTNT (ORPHAcode is broader than the targeted code used to represent it) Not yet validated OMIM 605019 BTNT (ORPHAcode is broader than the targeted code used to represent it) Not yet validated GARD 5 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C81.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1934975006 1117838449 Definition A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. 52 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 Alagille syndrome 1 Alagille-Watson syndrome Arteriohepatic dysplasia Syndromic bile duct paucity Malformation syndrome Disorder UMLS C0085280 E (Exact mapping: the two concepts are equivalent) Validated OMIM 118450 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610205 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D016738 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053870 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q44.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0007318 E (Exact mapping: the two concepts are equivalent) Validated GARD 804 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB20.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2041553070%2fother 1249656206 Definition A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. 167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Chédiak-Higashi syndrome 1 Chédiak-Higashi disease Chédiak-Higashi-Steinbrink syndrome Disease Disorder MeSH D002609 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0007965 E (Exact mapping: the two concepts are equivalent) Validated OMIM 214500 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008963 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10008415 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 6035 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EC23.20 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1189424097 880927849 Definition Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. 195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 Cat-eye syndrome 1 CES Malformation syndrome Disorder UMLS C0265493 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q92.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 115470 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535918 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD41.P NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1565415915 1813923633 GARD 26 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007276 E (Exact mapping: the two concepts are equivalent) Validated Definition Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. 207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 Crouzon syndrome 1 Crouzon craniofacial dysostosis Malformation syndrome Disorder ICD-10 Q75.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated UMLS C0010273 E (Exact mapping: the two concepts are equivalent) Validated OMIM 123500 E (Exact mapping: the two concepts are equivalent) Validated GARD 6206 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007405 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.G1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1535725821 1535725821 Definition Crouzon disease is characterized by craniosynostosis and facial hypoplasia. 205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 Crigler-Najjar syndrome 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency Bilirubin-UGT deficiency Disease Disorder ICD-10 E80.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 5C58.00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#291439191 291439191 OMIM 218800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606785 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0009044 E (Exact mapping: the two concepts are equivalent) Validated MeSH D003414 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5551003 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10011386 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy. 160148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148 Cap polyposis 1 Cap inflammatory polyposis Eroded polypoid hyperplasia Inflammatory myoglandular polyps Polypoid prolapsing folds Disease Disorder MONDO 0015565 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D12.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4303971 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2E92.40 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#790871642 1387262691 Definition A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea. 201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 Cowden syndrome 1 Cowden disease Multiple hamartoma syndrome Clinical subtype Subtype of disorder GARD 6202 E (Exact mapping: the two concepts are equivalent) Validated OMIM 158350 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0016063 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006223 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0018553 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10051906 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q85.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 615108 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615109 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615107 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616858 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LD2D.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1427672516%2fother 2020168794 Definition A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline <i>PTEN</i> mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group. 192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 Coffin-Lowry syndrome 1 CLS Malformation syndrome Disorder ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 380089065 MedDRA 10081806 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010561 E (Exact mapping: the two concepts are equivalent) Validated OMIM 303600 E (Exact mapping: the two concepts are equivalent) Validated MeSH D038921 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265252 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 6123 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and <i>pectus carinatum/excavatum</i>. Intellectual disability ranges from mild to severe. 2442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442 X-linked lymphoproliferative disease 1 Duncan disease Purtilo syndrome XLP Clinical group Group of disorders OMIM 300635 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 308240 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 10915 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0549463 E (Exact mapping: the two concepts are equivalent) Validated MeSH D008232 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10068348 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010627 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.22 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#969875874 2126467634 This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 169808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808 Mild hemophilia A 1 Mild congenital factor VIII deficiency Mild congenital F8 deficiency Clinical subtype Subtype of disorder ICD-11 3B10.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#337607970 UMLS C0272324 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D66 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015721 E (Exact mapping: the two concepts are equivalent) Validated OMIM 306700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated Definition A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations. 169826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169826 Congenital vitamin K-dependent coagulation factors deficiency 1 Category Group of disorders UMLS C5680448 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 169802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802 Severe hemophilia A 1 Severe congenital factor VIII deficiency Severe congenital F8 deficiency Clinical subtype Subtype of disorder OMIM 306700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C0272322 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D66 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 3B10.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#337607970 MONDO 0015719 E (Exact mapping: the two concepts are equivalent) Validated Definition A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations. 169805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805 Moderate hemophilia A 1 Moderate congenital factor VIII deficiency Moderate congenital F8 deficiency Clinical subtype Subtype of disorder MONDO 0015720 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3B10.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#337607970 ICD-10 D66 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0272323 E (Exact mapping: the two concepts are equivalent) Validated OMIM 306700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated Definition A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 5 IU/dL) leading to abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations. 562 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 McCune-Albright syndrome 1 Disease Disorder GARD 6995 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0242292 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 174800 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018919 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10052032 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 FB80.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1704766818 132749439 Definition A rare mosaic syndrome characterized by the combination of two or more of the following: fibrous dysplasia of bone (FD), hyperpigmented macules, and hyperfunctioning endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, endogenous Cushing syndrome). 565 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 Menkes disease 1 Menkes kinky hair disease MD Menkes syndrome Disease Disorder GARD 1521 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0022716 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10027294 E (Exact mapping: the two concepts are equivalent) Validated OMIM 309400 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E83.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH D007706 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010651 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C64.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1926278296%2fother 986728180 Definition A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair. 2443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 1 Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies Category Group of disorders UMLS C5679573 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. 555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555 NON RARE IN EUROPE: Celiac disease 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Celiac sprue NON RARE IN EUROPE: Coeliac sprue NON RARE IN EUROPE: Coeliac disease NON RARE IN EUROPE: Nontropical sprue NON RARE IN EUROPE: Gluten intolerance NON RARE IN EUROPE: Idiopathic steatorrhea NON RARE IN EUROPE: Gluten-induced enteropathy NON RARE IN EUROPE: Gluten-sensitive enteropathy Disease Disorder MedDRA 10009839 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 K90.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 Jeune syndrome 1 Asphyxiating thoracic dystrophy of the newborn JATD Jeune asphyxiating thoracic dystrophy Malformation syndrome Disorder ICD-11 LD24.B1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#554018956 554018956 OMIM 617088 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611263 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613819 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613091 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614376 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615633 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615630 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619479 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616300 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0265275 E (Exact mapping: the two concepts are equivalent) Validated GARD 3049 E (Exact mapping: the two concepts are equivalent) Validated OMIM 208500 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C537571 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10057621 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0018770 E (Exact mapping: the two concepts are equivalent) Validated Definition Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes. 540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 Familial hemophagocytic lymphohistiocytosis 1 Familial HLH Disease Disorder OMIM 267700 E (Exact mapping: the two concepts are equivalent) Validated OMIM 603552 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 603553 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608898 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613101 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 6589 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.23 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1523519942 950019605 MONDO 15541 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0272199 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10070904 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D76.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 618998 BTNT (ORPHAcode is broader than the targeted code used to represent it) Not yet validated MONDO 0015541 E (Exact mapping: the two concepts are equivalent) Validated Definition Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth. 568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 Microphthalmia, Lenz type 1 Lenz microphthalmia Malformation syndrome Disorder OMIM 300166 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 309800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C537464 E (Exact mapping: the two concepts are equivalent) Validated GARD 87 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q11.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0796016 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018924 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD21.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#609020523 678242327 Definition A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome. 564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 Meckel syndrome 1 Dysencephalia splanchnocystica Meckel-Gruber syndrome Malformation syndrome Disorder ICD-11 LD2F.13 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#695796893 695796893 OMIM 615397 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 3436 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265215 E (Exact mapping: the two concepts are equivalent) Validated OMIM 249000 E (Exact mapping: the two concepts are equivalent) Validated OMIM 603194 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 607361 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611134 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611561 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612284 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613885 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609345 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614209 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0018921 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617562 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619879 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 267010 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616258 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614175 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 Q61.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated 1396 OBSOLETE: Cerebrorenodigital syndrome Referred to Definition A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. 289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 Ellis Van Creveld syndrome 1 Chondroectodermal dysplasia Mesodermic dysplasia Malformation syndrome Disorder GARD 1301 E (Exact mapping: the two concepts are equivalent) Validated OMIM 619143 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617088 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618123 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D004613 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0013903 E (Exact mapping: the two concepts are equivalent) Validated OMIM 225500 E (Exact mapping: the two concepts are equivalent) Validated OMIM 619142 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10008724 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0009162 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD27.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1156567558%2fother 278346811 Definition A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. 258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 Laminin subunit alpha 2-related congenital muscular dystrophy 1 CMD1A Congenital muscular dystrophy due to laminin alpha2 deficiency MDC1A Merosin-negative congenital muscular dystrophy Congenital muscular dystrophy type 1A Malformation syndrome Disorder GARD 3843 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1263858 E (Exact mapping: the two concepts are equivalent) Validated OMIM 607855 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C537384 E (Exact mapping: the two concepts are equivalent) Validated 1877 Muscular dystrophy-white matter spongiosis syndrome Moved to Definition A rare congenital muscular dystrophy characterized by severe hypotonia, muscle weakness and muscle wasting presenting at birth or during infancy, poor spontaneous movements and contractures of the large joints. Patients have poor motor development leading to feeding and respiratory issues. 1247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1247 Schistosomiasis 1 Bilharziasis Disease Disorder UMLS C0036323 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10039603 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B65.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 181460 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 B65.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B65.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B65.3 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B65.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B65.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D012552 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015254 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 1F86.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1139567957 1139567957 ICD-11 1F86.3 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1552774890 1552774890 ICD-11 1F86.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1376448576 1376448576 ICD-11 1F86.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#927022506 927022506 ICD-11 1F86 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1194562592 1194562592 GARD 9687 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare parasitic disease characterized by infection with trematodes of the genus <i>Schistosoma</i>. Humans become infected when larvae (cercariae) in infested freshwater penetrate the skin, potentially causing cercarial dermatitis. After a few weeks, eggs laid by the adult female worms living in blood vessels become trapped in body tissues, causing progressive organ damage due to inflammation, granuloma formation, and fibrosis. Acute schistosomiasis presents with fever, cough, headache, and urticaria, while chronic manifestations depend on the localization of the eggs and typically include abdominal pain, diarrhea, hepatosplenomegaly, blood in stool or urine, and dysuria, among others. 112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112 Bartter syndrome 1 Renal tubular normotensive hypokalemic alkalosis with hypercalciuria Salt-losing tubular disorder, Henle's loop type Salt-wasting tubulopathy, Henle's loop type Disease Disorder OMIM 241200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601198 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 601678 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 602522 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 607364 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613090 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D001477 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0004775 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10050839 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E26.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0015231 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300971 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 GB90.43 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#777233947 777233947 GARD 5893 E (Exact mapping: the two concepts are equivalent) Validated 93604 OBSOLETE: Antenatal Bartter syndrome Referred to 98119 OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly Referred to Definition Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. 169446 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169446 OBSOLETE: Autosomal recessive hyper-IgE syndrome 8192 Inactive 16 Obsolete entity OBSOLETE: AR-HIES OBSOLETE: Autosomal recessive HIES OBSOLETE: Non-skeletal hyper-IgE syndrome OBSOLETE: Hyperimmunoglobulin E syndrome type 2 Category Group of disorders 641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency 169443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells 1 Category Group of disorders ICD-11 4A01.02 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#29897844 29897844 UMLS C5680449 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 1646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646 Chromosome Y microdeletion syndrome 1 Male infertility due to chromosome Y microdeletion Microdeletion of the AZF region on the Y chromosome Malformation syndrome Disorder MONDO 0015607 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536297 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q98.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 400042 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 415000 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 5A81.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#537070421 355552409 UMLS C5924994 E (Exact mapping: the two concepts are equivalent) Validated Definition A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion. 169464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 Primary CD59 deficiency 1 Disease Disorder ICD-11 4A00.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1222145690%2fother 709829617 UMLS C4755276 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612300 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D84.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0012858 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). 99 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 Autosomal dominant cerebellar ataxia 1 ADCA Autosomal dominant spinocerebellar ataxia Category Group of disorders UMLS C4087347 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A03.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#442347652%2fother 782552318 MONDO 0020380 E (Exact mapping: the two concepts are equivalent) Validated GARD 4346 E (Exact mapping: the two concepts are equivalent) Validated 98068 OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly Referred to 98069 OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy Referred to 98070 OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine Referred to 98071 OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation Referred to 98073 OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia Referred to Definition A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. 116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 Beckwith-Wiedemann syndrome 1 BWS Exomphalos-macroglossia-gigantism syndrome Wiedemann-Beckwith syndrome Malformation syndrome Disorder MeSH D001506 E (Exact mapping: the two concepts are equivalent) Validated OMIM 130650 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0004903 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10050344 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0007534 E (Exact mapping: the two concepts are equivalent) Validated GARD 3343 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2C NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2113355045 803086260 Definition A rare imprinting disorder characterized by pre- and postnatal overgrowth, macroglossia, abdominal wall defects and an elevated tumor risk. The clinical expression is variable, ranging from lateralised overgrowth to a pronounced clinical presentation. 87 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 Apert syndrome 1 ACS1 Acrocephalosyndactyly type 1 Malformation syndrome Disorder MedDRA 10002943 E (Exact mapping: the two concepts are equivalent) Validated GARD 5833 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0001193 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 101200 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007041 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.G2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1962779847 1962779847 Definition A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. 169618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169618 NON RARE IN EUROPE: Secondary central precocious puberty 8192 Inactive 1 32 Non-rare disease in Europe Etiological subtype Subtype of disorder This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 169615 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169615 NON RARE IN EUROPE: Idiopathic central precocious puberty 8192 Inactive 1 32 Non-rare disease in Europe Etiological subtype Subtype of disorder This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 97 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97 Familial paroxysmal ataxia 1 Episodic ataxia type 2 Disease Disorder ICD-10 G11.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C1720416 E (Exact mapping: the two concepts are equivalent) Validated OMIM 108500 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A03.14 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#423095680 1470995662 GARD 9602 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007163 E (Exact mapping: the two concepts are equivalent) Validated Definition A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. 169467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169467 Recurrent Neisseria infections due to factor D deficiency 1 Disease Disorder UMLS C5190780 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A00.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1222145690%2fother 528757185 OMIM 613912 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D84.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0013487 E (Exact mapping: the two concepts are equivalent) Validated Definition Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to <i> Neisseria </i> bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. 313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 Lamellar ichthyosis 1 LI Disease Disorder MONDO 0017778 E (Exact mapping: the two concepts are equivalent) Validated MeSH D017490 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q80.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C5848247 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EC20.02 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#430849255 600146417 MedDRA 10023686 E (Exact mapping: the two concepts are equivalent) Validated OMIM 242300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 601277 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 604777 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606545 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612281 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613943 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 146750 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617574 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 10803 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617571 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma. 169799 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799 Mild hemophilia B 1 Mild congenital factor IX deficiency Mild congenital F9 deficiency Clinical subtype Subtype of disorder UMLS C5679574 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015717 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3B11.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1901375668 1810106678 ICD-10 D67 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 306900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated Definition A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40&nbsp;IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations. 169796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796 Moderate hemophilia B 1 Moderate congenital F9 deficiency Moderate congenital factor IX deficiency Clinical subtype Subtype of disorder UMLS C5679575 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3B11.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1901375668 1741015882 MONDO 0015716 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D67 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 306900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated Definition A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations. 169793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793 Severe hemophilia B 1 Severe congenital factor IX deficiency Severe congenital F9 deficiency Clinical subtype Subtype of disorder UMLS C5679576 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3B11.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1901375668 1209364172 ICD-10 D67 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 306900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MONDO 0015715 E (Exact mapping: the two concepts are equivalent) Validated Definition A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations. 406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=406 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: HeFH Disease Disorder ICD-10 E78.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 171220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220 Isolated rectal duplication 1 Morphological anomaly Disorder ICD-11 LB17.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1587585031%2fother 1354283575 UMLS C4511483 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015734 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q43.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum. 1000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 Ocular albinism with late-onset sensorineural deafness 1 Ocular albinism with late-onset sensorineural hearing loss Disease Disorder OMIM 300650 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537043 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1845069 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD2H.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#186534168%2fother 746470881 MONDO 0010390 E (Exact mapping: the two concepts are equivalent) Validated GARD 592 E (Exact mapping: the two concepts are equivalent) Validated Definition Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. 999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999 Ermine phenotype 1 O'Doherty syndrome Pigmentary disorder with hearing loss Pigmentary disorder with deafness Malformation syndrome Disorder MONDO 0009196 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535508 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1856899 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 227010 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2H.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#186534168%2fother 2048725507 GARD 407 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging. 171430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 Severe congenital nemaline myopathy 1 Disease Disorder ICD-11 8C72.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1996502540 1025202057 OMIM 615348 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 161800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 256030 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615731 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616165 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 12821 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680451 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015735 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates. 171433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 Intermediate nemaline myopathy 1 Disease Disorder OMIM 609284 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 256030 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615731 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 8C72.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1996502540 1667070006 OMIM 161800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0015736 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680452 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 12823 E (Exact mapping: the two concepts are equivalent) Validated Definition Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression. 171436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 Typical nemaline myopathy 1 Disease Disorder OMIM 161800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610687 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609285 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 256030 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615731 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616165 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0015737 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680453 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1996502540 1105111633 ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 12822 E (Exact mapping: the two concepts are equivalent) Validated Definition Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement. 171439 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 Childhood-onset nemaline myopathy 1 Mild nemaline myopathy Disease Disorder MONDO 0015738 E (Exact mapping: the two concepts are equivalent) Validated OMIM 161800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609285 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609284 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 256030 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609273 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615731 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0546125 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617336 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 7171 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1996502540 1984793391 ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NMs) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. 55 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 Oculocutaneous albinism 1 OCA Clinical group Group of disorders MONDO 0018910 E (Exact mapping: the two concepts are equivalent) Validated GARD 10958 E (Exact mapping: the two concepts are equivalent) Validated MeSH D016115 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0078918 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EC23.20 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1189424097 1189424097 Definition A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8. 171442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442 Adult-onset nemaline myopathy 1 Disease Disorder MONDO 0015739 E (Exact mapping: the two concepts are equivalent) Validated GARD 12824 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1996502540 1610331066 UMLS C0546123 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. 171445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 Muscle filaminopathy 1 FLNC-associated myofibrillar myopathy Filamin C-related filaminopathy MFM5 Disease Disorder ICD-11 8C76 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#125656853 1084199137 MONDO 0012289 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4707258 E (Exact mapping: the two concepts are equivalent) Validated OMIM 609524 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases. 171607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607 X-linked spastic paraplegia type 34 1 SPG34 Disease Disorder ICD-11 8B44.02 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1613343556 1075495048 MeSH C567465 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010418 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300750 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2677897 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. 2771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 Bruck syndrome 1 Osteogenesis imperfecta-congenital joint contractures syndrome Malformation syndrome Disorder MONDO 0017195 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0432253 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10063718 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M21.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated ICD-11 LD24.KY NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1325365261%2fother 1783996418 OMIM 259450 E (Exact mapping: the two concepts are equivalent) Validated OMIM 609220 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 1029 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic bone disease characterized by the association of osteogenesis imperfecta and congenital joint contractures. 106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=106 NON RARE IN EUROPE: Autism 8192 Inactive 1 32 Non-rare disease in Europe Malformation syndrome Disorder ICD-10 F84.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 171612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612 Autosomal dominant spastic paraplegia type 37 1 SPG37 Disease Disorder ICD-11 8B44.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1547801209 1636862745 MeSH C567931 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2936880 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0012766 E (Exact mapping: the two concepts are equivalent) Validated OMIM 611945 E (Exact mapping: the two concepts are equivalent) Validated Definition A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. 171617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617 Autosomal dominant spastic paraplegia type 38 1 SPG38 Disease Disorder ICD-11 8B44.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1547801209 1487713774 MONDO 0012867 E (Exact mapping: the two concepts are equivalent) Validated MeSH C567349 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612335 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2676732 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, <i>pes cavus</i>, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported. 1349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 Mitochondrial DNA-related cardiomyopathy and hearing loss 1 mtDNA-related cardiomyopathy and deafness Maternally-inherited cardiomyopathy and deafness tRNA-LYS-related cardiomyopathy-hearing loss syndrome mtDNA-related cardiomyopathy and hearing loss Malformation syndrome Disorder ICD-10 E88.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015283 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4510409 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5D0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#393047701%2fother Definition A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. 171622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622 Autosomal recessive spastic paraplegia type 32 1 SPG32 Disease Disorder MeSH C566983 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012643 E (Exact mapping: the two concepts are equivalent) Validated GARD 12749 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8B44.01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1789135912 35767708 OMIM 611252 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1970009 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. 171629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629 Autosomal recessive spastic paraplegia type 35 1 SPG35 Disease Disorder GARD 10538 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8B44.01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1789135912 807932315 MONDO 0012866 E (Exact mapping: the two concepts are equivalent) Validated MeSH C567311 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3496228 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612319 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. 357 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357 NON RARE IN EUROPE: Gilbert syndrome 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Familial cholemia NON RARE IN EUROPE: Hyperbilirubinemia type 1 Disease Disorder ICD-10 E80.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 Treacher-Collins syndrome 1 Franceschetti-Klein syndrome Mandibulofacial dysostosis without limb anomalies Malformation syndrome Disorder UMLS C0242387 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q75.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0002457 E (Exact mapping: the two concepts are equivalent) Validated GARD 9124 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.16 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#424177015 969026676 OMIM 618939 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 154500 E (Exact mapping: the two concepts are equivalent) Validated OMIM 248390 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613717 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. 308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 Progressive myoclonic epilepsy type 1 1 Unverricht-Lundborg disease EPM1 Progressive myoclonus epilepsy type 1 ULD Disease Disorder MONDO 0009698 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020194 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0751785 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10054895 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A61.41 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#173613583 150954581 ICD-10 G40.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 3876 E (Exact mapping: the two concepts are equivalent) Validated OMIM 254800 E (Exact mapping: the two concepts are equivalent) Validated OMIM 310370 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612437 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. 1991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1991 Cleft lip with or without cleft palate 1 Tessier cleft number 1,2 Clinical group Group of disorders UMLS C0810364 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 Cornelia de Lange syndrome 1 Brachmann-de Lange syndrome Malformation syndrome Disorder MONDO 0016033 E (Exact mapping: the two concepts are equivalent) Validated MeSH D003635 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0270972 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10077707 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 122470 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300882 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300590 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610759 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614701 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 1801560012 OMIM 620568 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 10109 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present. 171201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171201 OBSOLETE: High isolated anorectal malformation 8192 Inactive 16 Obsolete entity Morphological anomaly Disorder 557 Non-syndromic anorectal malformation Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Non-syndromic anorectal malformation 2162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 Holoprosencephaly 1 HPE Malformation syndrome Disorder MeSH D016142 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10056304 E (Exact mapping: the two concepts are equivalent) Validated OMIM 609637 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610828 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610829 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612530 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 614226 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 Q04.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0079541 E (Exact mapping: the two concepts are equivalent) Validated OMIM 619895 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 142945 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 142946 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 147250 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 157170 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 236100 E (Exact mapping: the two concepts are equivalent) Validated OMIM 605934 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609408 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LA05.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1712699129 1712699129 MONDO 0016296 E (Exact mapping: the two concepts are equivalent) Validated GARD 6665 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity. 930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930 Idiopathic achalasia 1 Achalasia cardia Idiopathic achalasia of esophagus Primary achalasia Disease Disorder OMIM 200400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C536011 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0859976 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10036669 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 K22.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 DA21.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#636464846 396058084 MONDO 0019635 E (Exact mapping: the two concepts are equivalent) Validated GARD 5708 E (Exact mapping: the two concepts are equivalent) Validated 99722 OBSOLETE: Sporadic achalasia Referred to 99723 OBSOLETE: Familial esophageal achalasia Referred to Definition Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition. 171215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171215 OBSOLETE: Low isolated anorectal malformation 8192 Inactive 16 Obsolete entity Morphological anomaly Disorder 557 Non-syndromic anorectal malformation Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Non-syndromic anorectal malformation 998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998 Albinism-deafness syndrome 1 Albinism-hearing loss syndrome Malformation syndrome Disorder ICD-10 H90.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 300700 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537042 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1845068 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010403 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2H.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#186534168%2fother 1983697023 GARD 589 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. 171208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171208 OBSOLETE: Intermediate isolated anorectal malformation 8192 Inactive 16 Obsolete entity Morphological anomaly Disorder 557 Non-syndromic anorectal malformation Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Non-syndromic anorectal malformation 1727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727 22q11.2 duplication syndrome 1 Dup(22)(q11) Duplication 22q11.2 Trisomy 22q11.2 22q11.2 microduplication syndrome Malformation syndrome Disorder MeSH C567224 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2675369 E (Exact mapping: the two concepts are equivalent) Validated OMIM 608363 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q92.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 10557 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012020 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD41.M NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#517506657 2061812554 Definition A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. 169079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079 Cernunnos-XLF deficiency 1 Cernunnos XLFD Cernunnos deficiency Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome NHEJ1 deficiency Disease Disorder MONDO 0012650 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4303792 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1616506198%2fother 813059965 ICD-10 D81.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 611291 E (Exact mapping: the two concepts are equivalent) Validated Definition Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. 1716 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1716 Distal duplication 18q syndrome 1 Distal trisomy 18q Telomeric duplication 18q Trisomy 18qter Malformation syndrome Disorder MONDO 0015741 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q92.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C5190516 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features. 1715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715 Trisomy 18p syndrome 1 Duplication 18p Duplication of the short arm of chromosome 18 Trisomy of the short arm of chromosome 18 Malformation syndrome Disorder ICD-11 LD41.H1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2079728626 362808329 GARD 5323 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538307 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931811 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q92.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015740 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others. 3380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 Trisomy 18 syndrome 1 Chromosome 18 duplication Edwards syndrome Malformation syndrome Disorder UMLS C4317091 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053884 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q91.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q91.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q91.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q91.3 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 LD40.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1505179968 1505179968 MONDO 0018071 E (Exact mapping: the two concepts are equivalent) Validated GARD 6321 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000073842 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare chromosomal abnormality characterized by the presence of an extra chromosome&nbsp;18 material and manifesting with severe intellectual disability growth delay, and extremely variable multiple congenital anomalies, including minor malformations (cranio-facial dysmorphia, short sternum, overlapping fingers) and major malformations, especially cardiac and cerebral. Neurological involvement may lead to seizures and hypotonia. 168984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984 CLAPO syndrome 1 Malformation syndrome Disorder UMLS C2751313 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013125 E (Exact mapping: the two concepts are equivalent) Validated MeSH C567763 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2C NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2113355045 415642712 ICD-10 Q87.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 613089 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. 1707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 Distal duplication 15q syndrome 1 Distal trisomy 15q Telomeric duplication 15q Trisomy 15qter Etiological subtype Subtype of disorder MeSH C538036 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931705 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q92.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD2C NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#2113355045 null MONDO 0015728 E (Exact mapping: the two concepts are equivalent) Validated This disease is described under 15q overgrowth syndrome 168999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168999 Malignant melanoma of the mucosa 1 Disease Disorder ICD-10 C43.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C5191057 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015694 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence. 3378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 Trisomy 13 syndrome 1 Patau syndrome Malformation syndrome Disorder GARD 7341 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD40.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1435958084 1435958084 MeSH D000073839 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018068 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10044686 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q91.4 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q91.5 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q91.6 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q91.7 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C2936830 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia. 168972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168972 Kahrizi syndrome 8192 Inactive 256 Deprecated entity 1 Intellectual disability, Kahrizi type Intellectual disability-cataract-coloboma-kyphosis syndrome Disease Disorder UMLS C2675185 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612713 E (Exact mapping: the two concepts are equivalent) Validated 324737 SRD5A3-CDG Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to SRD5A3-CDG 169110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169110 Immunoglobulin heavy chain deficiency 1 Disease Disorder MONDO 0015697 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.04 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#14210665 960006636 UMLS C0398692 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D80.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated 169100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 Immunodeficiency due to CD25 deficiency 1 Interleukin-2 receptor alpha chain deficiency Disease Disorder UMLS C4755277 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.21 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1902856995 1705860123 MONDO 0011664 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D89.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 606367 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy. 169105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169105 Thymoma-hypogammaglobulinemia syndrome 1 Good syndrome Disease Disorder ICD-11 4B40.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#812332735 812332735 MedDRA 10079838 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D81.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0221027 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015696 E (Exact mapping: the two concepts are equivalent) Validated GARD 8622 E (Exact mapping: the two concepts are equivalent) Validated Definition Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections. 169090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090 Combined immunodeficiency due to CRAC channel dysfunction 1 Immune dysfunction due to T-cell inactivation due to calcium entry defect Disease Disorder MONDO 0015695 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4303571 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1616506198%2fother 1641826886 ICD-10 D81.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 612782 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612783 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the <i>ORAI1</i> and <i>STIM1</i> genes: CID due to <i>ORAI1</i> deficiency and CID due to <i>STIM1</i> deficiency. 236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 Trisomy 9p syndrome 1 Duplication 9p Duplication of the short arm of chromosome 9 Trisomy of the short arm of chromosome 9 Malformation syndrome Disorder MONDO 0016526 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q92.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD41.81 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1126301219 22746166 UMLS C0265428 E (Exact mapping: the two concepts are equivalent) Validated Definition Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. 169095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095 Severe combined immunodeficiency due to FOXN1 deficiency 1 Alymphoid cystic thymic dysgenesis Nude/SCID SCID due to FOXN1 deficiency Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome Winged helix deficiency Nude/severe combined immunodeficiency Disease Disorder MONDO 11132 E (Exact mapping: the two concepts are equivalent) Validated GARD 4358 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011132 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1866426 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1616506198%2fother 17087877 ICD-10 D82.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 601705 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536781 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. 169082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082 Combined immunodeficiency due to CD3gamma deficiency 1 Disease Disorder MONDO 0014276 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4510864 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1616506198%2fother 68748907 ICD-10 D81.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 615607 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy. 169085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation 1 Familial CD8 deficiency Disease Disorder MeSH C563824 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1616506198%2fother 220561401 MONDO 0012161 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1837065 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D84.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 608957 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. 168829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829 Primary peritoneal carcinoma 1 EOPPC Extra-ovarian primary peritoneal carcinoma PPC Primary peritoneal serous carcinoma Serous surface papillary carcinoma Disease Disorder MONDO 0015686 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C48.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0334361 E (Exact mapping: the two concepts are equivalent) Validated 398980 OBSOLETE: Primary peritoneal serous/papillary carcinoma Referred to Definition Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma. 168816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168816 Peritoneal inclusion cyst 1 Benign multicystic peritoneal mesothelioma Multicystic mesothelioma Multilocular peritoneal inclusion cyst Peritoneal cyctic mesothelioma Disease Disorder UMLS C1334818 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C45.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0006363 E (Exact mapping: the two concepts are equivalent) Validated MONDO 6363 E (Exact mapping: the two concepts are equivalent) Validated GARD 10777 E (Exact mapping: the two concepts are equivalent) Validated Definition Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses. 753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency 1 46,XY DSD due to 5-alpha-reductase 2 deficiency Pseudovaginal perineoscrotal hypospadias Steroid 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Disease Disorder OMIM 264600 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009923 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535830 E (Exact mapping: the two concepts are equivalent) Validated GARD 5680 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10000029 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E29.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0268297 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2A.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#749282256 1028755501 Definition A rare difference of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. 868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 Triose phosphate-isomerase deficiency 1 Disease Disorder ICD-11 3A10.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1909380523%2fother 475025488 MONDO 0014221 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0398562 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615512 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D55.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 5287 E (Exact mapping: the two concepts are equivalent) Validated Definition Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration. 168811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168811 Malignant peritoneal mesothelioma 1 Diffuse malignant peritoneal mesothelioma Primary malignant peritoneal mesothelioma Disease Disorder UMLS C0346109 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10056558 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C45.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 2C51.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1934564626 1934564626 MONDO 0005512 E (Exact mapping: the two concepts are equivalent) Validated Definition Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity. 168807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168807 Primary malignant peritoneal tumor 1 Category Group of disorders UMLS C5680454 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 168803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168803 Primary peritoneal tumor 1 Category Group of disorders UMLS C5680455 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218 Darier disease 1 Darier-White disease Keratosis follicularis Disease Disorder UMLS C0022595 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10023369 E (Exact mapping: the two concepts are equivalent) Validated OMIM 124200 E (Exact mapping: the two concepts are equivalent) Validated MeSH D007644 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007417 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q82.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 6243 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EC20.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#248560941 643994486 Definition A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia. 168796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 Heart-hand syndrome, Slovenian type 1 Atriodigital dysplasia, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome Malformation syndrome Disorder MeSH C535852 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 610140 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 1814304618 GARD 9846 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1857829 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012417 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. 1465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 Coffin-Siris syndrome 1 CSS Malformation syndrome Disorder OMIM 618779 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 6124 E (Exact mapping: the two concepts are equivalent) Validated OMIM 135900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614607 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614608 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614609 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615866 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C536436 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265338 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 616938 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0015452 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD27.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1156567558%2fother 734451870 OMIM 617808 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619325 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618506 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618027 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10083941 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618362 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features. 168782 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168782 Childhood disintegrative disorder 1 Heller syndrome Dementia infantilis Disease Disorder GARD 6040 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 F84.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0015681 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0236791 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10008522 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 6A02.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1477082111 1460615954 Definition Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia. 1642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 Distal deletion 9p syndrome 1 Distal monosomy 9p Monosomy 9pter Telomeric deletion 9p Malformation syndrome Disorder ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015605 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265425 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538025 E (Exact mapping: the two concepts are equivalent) Validated Definition Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. 168966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966 Composite lymphoma 1 Composite Hodgkin and non-Hodgkin lymphoma Disease Disorder MedDRA 10073957 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C85.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-10 C81.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D058617 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 XH3BP6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#188582256 188582256 MONDO 0005710 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0545080 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare lymphoma characterized by the concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the tumors are clonally related. Clinical presentation and treatment are determined by the more aggressive component. 168960 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960 Refractory anemia with excess blasts in transformation 1 RAEB-t Disease Disorder ICD-11 2A34 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1839380478 812568400 ICD-10 D46.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0015692 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0280028 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10038271 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors. 8 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8 47,XYY syndrome 1 Jacobs syndrome Double Y syndrome XYY syndrome Y disomy Malformation syndrome Disorder UMLS C3266843 E (Exact mapping: the two concepts are equivalent) Validated GARD 5674 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535317 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10056894 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD52.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#902599592 ICD-10 Q98.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0019339 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. 1636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1636 Distal monosomy 7q36 syndrome 1 Distal deletion 7q36 Monosomy 7qter Telomeric deletion 7q36 Malformation syndrome Disorder ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4706504 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015580 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD44.70 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1458081087 135476363 Definition Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. 168956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956 Hypereosinophilic syndrome 1 HES Clinical group Group of disorders MONDO 0015691 E (Exact mapping: the two concepts are equivalent) Validated MeSH D017681 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1540912 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10048643 E (Exact mapping: the two concepts are equivalent) Validated GARD 2804 E (Exact mapping: the two concepts are equivalent) Validated Definition Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. 168953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement 1 8p11 myeloproliferative syndrome Stem cell leukemia/lymphoma Disease Disorder ICD-10 C92.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 2A52 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2019647878 2019647878 MONDO 13296 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013296 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3150773 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613523 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts. 168950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement 1 Disease Disorder UMLS C3472621 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C92.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 2A51 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#625932159 625932159 MONDO 15690 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015690 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. 1600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 Monosomy 18q syndrome 1 18q- syndrome Deletion 18q 18q deletion syndrome De Grouchy syndrome type 2 Malformation syndrome Disorder UMLS C0432443 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C536580 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011147 E (Exact mapping: the two concepts are equivalent) Validated GARD 10865 E (Exact mapping: the two concepts are equivalent) Validated OMIM 601808 E (Exact mapping: the two concepts are equivalent) Validated Definition A partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders. 168947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement 1 Disease Disorder ICD-10 C92.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 2A50 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#833355630 833355630 UMLS C4545381 E (Exact mapping: the two concepts are equivalent) Validated MONDO 15689 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015689 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. 168943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 1 Category Group of disorders UMLS C5680457 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015688 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 1598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598 Monosomy 18p syndrome 1 18p- syndrome De Grouchy syndrome type 1 Disease Disorder ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 8631 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538309 E (Exact mapping: the two concepts are equivalent) Validated OMIM 146390 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0432442 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare deletion of all or part of the short arm of chromosome 18 characterized by a highly variable phenotype, most commonly including global developmental delay, short stature, and dysmorphic facial features. 168940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940 Chronic eosinophilic leukemia 1 Disease Disorder ICD-11 2A20.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1901756287 1901756287 MONDO 0015687 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0346421 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10065854 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D47.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common. 2773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 512 Historical entity 1 Al Gazali-Nair syndrome Malformation syndrome Disorder MONDO 0017196 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.KY NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1325365261%2fother 1914053882 GARD 587 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4302824 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. 2772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 512 Historical entity 1 Malformation syndrome Disorder OMIM 259410 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.KY NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1325365261%2fother 2117592710 MONDO 0009803 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537558 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1850184 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978. 2609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 Isolated complex I deficiency 1 Isolated NADH-coenzyme Q reductase deficiency Isolated NADH-ubiquinone reductase deficiency Isolated mitochondrial respiratory chain complex I deficiency Isolated NADH-CoQ reductase deficiency Disease Disorder OMIM 618230 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618232 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618241 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618222 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618229 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618236 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618244 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618233 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618240 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619003 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 252010 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 301021 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618237 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618224 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618246 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 301020 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618228 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619272 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C1838979 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618225 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618776 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618234 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618250 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618226 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618245 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C537475 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618251 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619170 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0100133 E (Exact mapping: the two concepts are equivalent) Validated GARD 3908 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C53.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1204111545%2fother 67580224 OMIM 620135 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618253 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618238 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618242 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated 936 Succinic acidemia Moved to 289527 OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Referred to Definition Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. 169361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169361 Immune dysregulation disease with immunodeficiency 1 Category Group of disorders UMLS C5680458 E (Exact mapping: the two concepts are equivalent) Validated 454872 OBSOLETE: Type 1 interferonopathy with immunodeficiency Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626 Large/giant congenital melanocytic nevus 1 LGCMN Large/giant CMN syndrome Large/giant congenital pigmented nevus Disease Disorder UMLS C1842036 E (Exact mapping: the two concepts are equivalent) Validated OMIM 137550 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2F20.20 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#618273329 618273329 MedDRA 10072036 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0044792 E (Exact mapping: the two concepts are equivalent) Validated GARD 2469 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D22.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system. 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease 1 Classic Refsum disease HMSN 4 Hereditary motor and sensory neuropathy type 4 Heredopathia atactica polyneuritiformis Phytanic-CoA hydroxylase deficiency HMSN IV Hereditary motor and sensory neuropathy type IV Disease Disorder OMIM 266500 E (Exact mapping: the two concepts are equivalent) Validated OMIM 614879 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 9958 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C57.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1092479335 1055252392 GARD 5691 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009958 E (Exact mapping: the two concepts are equivalent) Validated MeSH D012035 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0034960 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10038275 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G60.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. 11 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11 Pentasomy X syndrome 1 49,XXXXX syndrome Penta-X Poly-X Malformation syndrome Disorder UMLS C2937419 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015228 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD50.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1293378897%2fother 2087864894 GARD 5678 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535319 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q97.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). 169154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 1 T-B+ SCID due to IL-7Ralpha deficiency Disease Disorder UMLS C5679577 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D81.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 608971 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated ICD-11 4A01.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#963193284 79517655 MONDO 0015701 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis. 370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 Glycogen storage disease due to phosphorylase kinase deficiency 1 GSD due to phosphorylase kinase deficiency GSD type 9 GSD type IX Glycogen storage disease due to PhK deficiency Glycogen storage disease type 9 Glycogen storage disease type IX Glycogenosis due to phosphorylase kinase deficiency Glycogenosis type 9 Glycogenosis type IX Gycogenosis due to PhK deficiency Clinical group Group of disorders MedDRA 10083034 E (Exact mapping: the two concepts are equivalent) Validated MeSH C580130 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5848056 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 1544583473 Definition Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. 169150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150 Immunodeficiency due to a late component of complement deficiency 1 Immunodeficiency due to C5 to C9 component complement deficiency Terminal complement pathway deficiency Disease Disorder ICD-11 4A00.11 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#531050218 531050218 MONDO 0015700 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610102 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612446 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613789 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613790 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613825 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0398765 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D84.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 609536 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable. 169160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 1 T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta Disease Disorder MONDO 0015703 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5679578 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#963193284 486462255 ICD-10 D81.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 610163 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615615 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615617 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients. 385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 Neurodegeneration with brain iron accumulation 1 NBIA Clinical group Group of disorders MeSH C538421 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931845 E (Exact mapping: the two concepts are equivalent) Validated GARD 11899 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018307 E (Exact mapping: the two concepts are equivalent) Validated Definition Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. 169157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157 T-B+ severe combined immunodeficiency due to CD45 deficiency 1 T-B+ SCID due to CD45 deficiency Disease Disorder ICD-11 4A01.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#963193284 218521812 MONDO 0015702 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5679579 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D81.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 619924 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. 169139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169139 Transient hypogammaglobulinemia of infancy 1 Disease Disorder MONDO 0015698 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0272238 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10044388 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.03 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1686370790 1686370790 ICD-10 D80.7 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal. 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy 1 Progressive epilepsy-intellectual disability syndrome, Finnish type CLN8 disease, Northern epilepsy variant NCL, Northern epilepsy variant Neuronal ceroid lipofuscinosis, Northern epilepsy variant Clinical subtype Subtype of disorder MONDO 0012391 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610003 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1864923 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1568332253 1529318668 GARD 4010 E (Exact mapping: the two concepts are equivalent) Validated This disease is described under CLN8 disease 169147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169147 Immunodeficiency due to a classical component pathway complement deficiency 1 Immunodeficiency due to an early component of complement deficiency Immunodeficiency due to C1, C4, or C2 component complement deficiency Disease Disorder MONDO 0015699 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A00.10 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#327609494 327609494 OMIM 620321 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620322 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 1452 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0398750 E (Exact mapping: the two concepts are equivalent) Validated OMIM 216950 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 217000 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613652 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613783 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614379 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614380 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 D84.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected. 169142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142 Recurrent infections due to specific granule deficiency 1 Neutrophil-specific granule deficiency Disease Disorder UMLS C5546032 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617475 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0009506 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A00.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#808756909%2fother 1528881101 OMIM 245480 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 D71 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 9506 E (Exact mapping: the two concepts are equivalent) Validated GARD 10778 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails. 352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 Galactosemia 1 Category Group of disorders MeSH D005693 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10017604 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018116 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0016952 E (Exact mapping: the two concepts are equivalent) Validated GARD 2424 E (Exact mapping: the two concepts are equivalent) Validated OMIM 230200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 230350 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 230400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 5C51.4Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1462194012%2fother 2080157631 Definition Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. 596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 X-linked centronuclear myopathy 1 XLCNM XLMTM X-linked myotubular myopathy Disease Disorder GARD 11925 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0010683 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0410203 E (Exact mapping: the two concepts are equivalent) Validated OMIM 310400 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#742097637 1993913190 Definition A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure. 169349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169349 Immuno-osseous dysplasia 1 Clinical group Group of disorders ICD-11 4A01.32 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1948303413 1948303413 MONDO 0015708 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0432218 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 169346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies 1 Category Group of disorders ICD-11 4A01.31 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1362501774 1362501774 UMLS C5680459 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 169355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169355 Immunodeficiency syndrome with autoimmunity 1 Category Group of disorders ICD-11 4A01.21 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1902856995 1902856995 UMLS C5680460 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 610 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 Bethlem muscular dystrophy 1 Bethlem myopathy LGMD R22 collagen 6-related dystrophy LGMD R22 collagen VI-related dystrophy LGMD D5 collagen 6-related dystrophy LGMD D5 collagen VI-related dystrophy Mild form of COL6-related dystrophy Mild form of collagen VI-related dystrophy Disease Disorder MeSH C535436 E (Exact mapping: the two concepts are equivalent) Validated OMIM 620726 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620725 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0008029 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C70.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#396687076 72734329 UMLS C1834674 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 158810 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616471 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 873 E (Exact mapping: the two concepts are equivalent) Validated Definition A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. 169186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 Autosomal recessive centronuclear myopathy 1 AR-CNM Disease Disorder GARD 12718 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015705 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562934 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#742097637 1844602815 OMIM 255200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615959 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0410204 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement. 464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 Incontinentia pigmenti 1 Bloch-Siemens syndrome Bloch-Sulzberger syndrome Malformation syndrome Disorder ICD-11 LD27.00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1542530268 1542530268 MeSH D007184 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0021171 E (Exact mapping: the two concepts are equivalent) Validated OMIM 308300 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q82.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MedDRA 10077624 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010631 E (Exact mapping: the two concepts are equivalent) Validated GARD 6778 E (Exact mapping: the two concepts are equivalent) Validated Definition An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality. 3307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307 Tetrasomy 18p syndrome 1 Isochromosome 18p Malformation syndrome Disorder ICD-11 LD7Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#939957586%2fother 1182006735 MeSH C538306 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q99.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 614290 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0795868 E (Exact mapping: the two concepts are equivalent) Validated GARD 35 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013668 E (Exact mapping: the two concepts are equivalent) Validated Definition Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations. 169163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163 Familial scaphocephaly syndrome 1 Category Group of disorders MONDO 0015704 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3267076 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10072229 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=484 NON RARE IN EUROPE: Klinefelter syndrome 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: 47,XXY syndrome Malformation syndrome Disorder ICD-10 Q98.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 169189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189 Autosomal dominant centronuclear myopathy 1 AD-CNM Disease Disorder GARD 12719 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1834558 E (Exact mapping: the two concepts are equivalent) Validated OMIM 160150 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#742097637 629192160 MONDO 0008048 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features. 3084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3084 Mirhosseini-Holmes-Walton syndrome 8192 Inactive 256 Deprecated entity 1 Pigmentary retinopathy-intellectual disability syndrome Malformation syndrome Disorder OMIM 268050 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0796072 E (Exact mapping: the two concepts are equivalent) Validated 193 Cohen syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cohen syndrome 44 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 Neonatal adrenoleukodystrophy 1 NALD Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder Intermediate PBD-ZSD Disease Disorder GARD 559 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018598 E (Exact mapping: the two concepts are equivalent) Validated OMIM 202370 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 266510 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601539 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 614863 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614867 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614871 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614873 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614877 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614885 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614920 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0282525 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617370 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated ICD-11 5A74.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#733056203%2fother 478178009 ICD-10 E71.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) characterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). 56 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 Alkaptonuria 1 Hereditary ochronosis Homogentisic acid oxidase deficiency Disease Disorder MONDO 0008753 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0002066 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10001689 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH D000474 E (Exact mapping: the two concepts are equivalent) Validated OMIM 203500 E (Exact mapping: the two concepts are equivalent) Validated GARD 5775 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.10 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1761652827 1761652827 Definition A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). 963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963 Acromegaly 1 Disease Disorder GARD 5725 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A60.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#825410563 825410563 OMIM 102200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 300943 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0019933 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000172 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0001206 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10000599 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E22.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. 1059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 Blue rubber bleb nevus 1 Bean syndrome BRBN Malformation syndrome Disorder ICD-11 LC51 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#329960238 1112312815 MeSH C536240 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0346072 E (Exact mapping: the two concepts are equivalent) Validated OMIM 112200 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q27.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 5940 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007203 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. 1006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006 Alopecia antibody deficiency 512 Historical entity 1 Ipp-Gelfand syndrome Disease Disorder MONDO 0015082 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D80.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C5190867 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976. 1046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 Lethal hemolytic anemia-genital anomalies syndrome 512 Historical entity 1 Water-West syndrome Malformation syndrome Disorder GARD 2642 E (Exact mapping: the two concepts are equivalent) Validated OMIM 600461 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D58.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0010891 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3A10.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#1909380523%2fother UMLS C4304746 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995. 22 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 Succinic semialdehyde dehydrogenase deficiency 1 4-hydroxybutyric aciduria Gamma-hydroxybutyric aciduria SSADH deficiency Disease Disorder ICD-11 5C50.E1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1644149132 2031643850 MONDO 0010083 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535803 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 7695 E (Exact mapping: the two concepts are equivalent) Validated OMIM 271980 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268631 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. 29 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 Mevalonic aciduria 1 Complete mevalonate kinase deficiency MVA Clinical subtype Subtype of disorder ICD-11 5C52.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#210624950 572875152 MONDO 0012481 E (Exact mapping: the two concepts are equivalent) Validated GARD 3588 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1959626 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10072219 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610377 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E88.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. 245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 Nager syndrome 1 Mandibulofacial dysostosis with preaxial limb anomalies NAFD Nager acrofacial dysostosis Preaxial acrodysostosis Malformation syndrome Disorder MONDO 0007943 E (Exact mapping: the two concepts are equivalent) Validated GARD 498 E (Exact mapping: the two concepts are equivalent) Validated OMIM 154400 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538184 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265245 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q75.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MedDRA 10084410 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD25.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1702160042 274140112 Definition A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. 30 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 Hereditary orotic aciduria 1 Orotidylic decarboxylase deficiency Uridine monophosphate synthetase deficiency Disease Disorder MONDO 9797 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3A03.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#449856959 449856959 ICD-10 E79.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated GARD 5429 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537136 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0220987 E (Exact mapping: the two concepts are equivalent) Validated OMIM 258900 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10052621 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009797 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported. 36 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 Acrocallosal syndrome 1 ACS Malformation syndrome Disorder MeSH D055673 E (Exact mapping: the two concepts are equivalent) Validated GARD 5721 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10083865 E (Exact mapping: the two concepts are equivalent) Validated OMIM 200990 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0796147 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q04.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 1286493807 MONDO 0008708 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. 915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 Aarskog-Scott syndrome 1 Aarskog syndrome Faciodigitogenital syndrome Faciogenital dysplasia Malformation syndrome Disorder MONDO 21005 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535331 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0175701 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10067148 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 4775 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 2104999247 MONDO 0021005 E (Exact mapping: the two concepts are equivalent) Validated OMIM 100050 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 305400 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. 2614 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 Nail-patella syndrome 1 Onychoosteodysplasia Turner-Kieser syndrome Malformation syndrome Disorder ICD-10 Q87.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 7160 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008061 E (Exact mapping: the two concepts are equivalent) Validated OMIM 161200 E (Exact mapping: the two concepts are equivalent) Validated MeSH D009261 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0027341 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10063431 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.J0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1121867410 1121867410 98704 OBSOLETE: Onycho-patellar syndrome with eye involvement Referred to Definition A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. 33 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 Isovaleric acidemia 1 Isovaleric acid CoA dehydrogenase deficiency Disease Disorder MedDRA 10083852 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009475 E (Exact mapping: the two concepts are equivalent) Validated GARD 465 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538167 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268575 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E71.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 5C50.E0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1879509617 1817788413 OMIM 243500 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives. 168194 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168194 Rare cardiac tumor 1 Category Group of disorders UMLS C5680461 E (Exact mapping: the two concepts are equivalent) Validated 208600 OBSOLETE: Papillary fibroelastoma of the heart Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=924 NON RARE IN EUROPE: Acanthosis nigricans 8192 Inactive 1 32 Non-rare disease in Europe Disease Disorder ICD-10 L83 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 Smith-Magenis syndrome 1 17p11.2 microdeletion syndrome Malformation syndrome Disorder OMIM 182290 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008434 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD44.H1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#527787991 989025532 ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D058496 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0795864 E (Exact mapping: the two concepts are equivalent) Validated GARD 8197 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10081680 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal). 3085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 512 Historical entity 1 Edwards-Sethi syndrome Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome Malformation syndrome Disorder OMIM 268020 E (Exact mapping: the two concepts are equivalent) Validated GARD 4683 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009983 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4518330 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2H.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#186534168%2fother 1217628307 ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. 9 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9 Tetrasomy X syndrome 1 48,XXXX syndrome Quadruple X Tetra X Malformation syndrome Disorder ICD-11 LD50.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1293378897%2fother 1181464236 MONDO 0019525 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536502 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265496 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q97.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 7754 E (Exact mapping: the two concepts are equivalent) Validated Definition Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). 168615 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615 Hereditary persistence of alpha-fetoprotein 1 Biological anomaly Disorder OMIM 615970 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0014425 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 R77.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Not yet validated UMLS C1863080 E (Exact mapping: the two concepts are equivalent) Validated Definition Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy 168612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612 Congenital deficiency in alpha-fetoprotein 1 Biological anomaly Disorder UMLS C4274336 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615969 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0014424 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 R77.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Not yet validated Definition Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate. 1442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442 Ring chromosome 18 syndrome 1 Ring chromosome 18 Ring 18 Malformation syndrome Disorder MONDO 0015434 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538304 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265475 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q93.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 6077 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD7Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#939957586%2fother 265033908 Definition A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. 168621 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621 Dysplasia of head of femur, Meyer type 1 Meyer dysplasia DECF Dysplasia epiphysealis capitis femoris Disease Disorder ICD-10 Q78.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015678 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.6Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2078345611%2fother 381445908 UMLS C4274970 E (Exact mapping: the two concepts are equivalent) Validated Definition Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. 1452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 Cleidocranial dysplasia 1 Cleidocranial dysostosis Malformation syndrome Disorder GARD 6118 E (Exact mapping: the two concepts are equivalent) Validated OMIM 620099 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D002973 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0008928 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MedDRA 10075994 E (Exact mapping: the two concepts are equivalent) Validated OMIM 119600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LD24.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#197679619%2fother 1960754156 Definition Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities. 1455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1455 OBSOLETE: Autosomal dominant coarctation of aorta 8192 Inactive 16 Obsolete entity Clinical subtype Subtype of disorder 1457 Coarctation of aorta Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Aorta coarctation 168629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629 Autosomal thrombocytopenia with normal platelets 1 Etiological subtype Subtype of disorder OMIM 616216 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 D69.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 188000 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 273900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612004 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C5680462 E (Exact mapping: the two concepts are equivalent) Validated 193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 Cohen syndrome 1 Malformation syndrome Disorder MONDO 0008999 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD90.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#775270311%2fother 1188737383 MeSH C536438 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265223 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10049066 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 216550 E (Exact mapping: the two concepts are equivalent) Validated GARD 6126 E (Exact mapping: the two concepts are equivalent) Validated 3084 Mirhosseini-Holmes-Walton syndrome Moved to 2829 Partington-Anderson syndrome Moved to 3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome Moved to 99142 Microcephaly-cutis verticis gyrata-lymphedema syndrome Moved to Definition A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. 168624 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 Familial scaphocephaly syndrome, McGillivray type 1 Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome Malformation syndrome Disorder OMIM 609579 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD24.GY NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1908604930%2fother 512057922 GARD 3426 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012307 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4510730 E (Exact mapping: the two concepts are equivalent) Validated Definition Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. 168778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168778 Rare pervasive developmental disorder 1 Rare autism spectrum disorder Rare PDD Rare ASD Category Group of disorders MeSH D002659 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5679581 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10061345 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 1488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 Cooper-Jabs syndrome 512 Historical entity 1 Aural atresia-multiple congenital anomalies-intellectual disability syndrome Malformation syndrome Disorder MONDO 0008850 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 209770 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4303864 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. 200 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200 Isolated corpus callosum agenesis 1 Morphological anomaly Disorder ICD-10 Q04.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0026419 E (Exact mapping: the two concepts are equivalent) Validated MeSH D061085 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0175754 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA05.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2012425106 2012425106 Definition A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. 168632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632 Generalized basaloid follicular hamartoma syndrome 1 Disease Disorder UMLS C4707879 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q82.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 605827 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011605 E (Exact mapping: the two concepts are equivalent) Validated Definition Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. 1334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 Chronic mucocutaneous candidiasis 1 CMC Disease Disorder UMLS C0006845 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10009007 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B37.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 1F23.14 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2120780687 2120780687 MONDO 0015279 E (Exact mapping: the two concepts are equivalent) Validated GARD 1077 E (Exact mapping: the two concepts are equivalent) Validated OMIM 114580 E (Exact mapping: the two concepts are equivalent) Validated OMIM 247650 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 252250 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 607644 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613108 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613953 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613956 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D002178 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615527 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616445 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen <i>Candida albicans</i>. 168583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 Hereditary North American Indian childhood cirrhosis 1 Clinical subtype Subtype of disorder OMIM 604901 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 K74.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 DB93.20 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1992710077 1992710077 UMLS C1858051 E (Exact mapping: the two concepts are equivalent) Validated MeSH C565737 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011497 E (Exact mapping: the two concepts are equivalent) Validated Definition Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence. 1369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 1 Sengers syndrome Disease Disorder MONDO 0008922 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618805 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 5C53.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#266291267%2fother 22670425 OMIM 212350 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615418 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C538280 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1859317 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 1142 E (Exact mapping: the two concepts are equivalent) Validated Definition Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. 168577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 Hereditary cryohydrocytosis with reduced stomatin 1 CHC type 2 Hereditary cryohydrocytosis type 2 Stomatin-deficient cryohydrocytosis sdCHC Disease Disorder MONDO 0012143 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D58.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 608885 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3A10.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1909380523%2fother 1459095719 UMLS C5190707 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. 168593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 Sudden infant death-dysgenesis of the testes syndrome 1 SIDDT Malformation syndrome Disorder UMLS C1837371 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G90.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 608800 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 MH11.Z NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#56255971%2funspecified 755618559 GARD 12382 E (Exact mapping: the two concepts are equivalent) Validated MeSH C563856 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012124 E (Exact mapping: the two concepts are equivalent) Validated Definition Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. 1406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 Charlie M syndrome 512 Historical entity 1 Malformation syndrome Disorder ICD-11 LD25.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1868700139%2fother 1284734481 UMLS C4518555 E (Exact mapping: the two concepts are equivalent) Validated GARD 1261 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015367 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes(OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactylyl and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. 168588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588 Hyperandrogenism due to cortisone reductase deficiency 1 11-beta-hydroxysteroid dehydrogenase deficiency type 1 Malformation syndrome Disorder GARD 9882 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E25.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 604931 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614662 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C4329210 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A71.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#131153029%2fother 1515798114 MONDO 0000193 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. 168601 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601 Congenital enteropathy due to enteropeptidase deficiency 1 Congenital enterokinase deficiency Disease Disorder OMIM 226200 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 K90.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0268416 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 DA90.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1658346518%2fother 1384317078 MeSH C562649 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009173 E (Exact mapping: the two concepts are equivalent) Validated Definition Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. 1414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 Cholestasis-lymphedema syndrome 1 Aagenaes syndrome Disease Disorder UMLS C0268314 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008966 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535330 E (Exact mapping: the two concepts are equivalent) Validated GARD 370 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 DB99.6Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2092047168%2fother 1087517390 OMIM 214900 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q82.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. 168598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 Methionine adenosyltransferase I/III deficiency 1 MAT I/III deficiency Mudd's disease Disease Disorder ICD-10 E72.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 250850 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268621 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.B NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#67872354 530628531 MONDO 9607 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009607 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Half of patients reported with MAT I/III deficiency, notably those with hypermethioninemia below 800 µM, have no CNS abnormalities and are clinically asymptomatic. However, individuals with higher levels might show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients. 1417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1417 OBSOLETE: Platyspondylic lethal chondrodysplasia 8192 Inactive 16 Obsolete entity OBSOLETE: Akaba-Hayasaka syndrome Malformation syndrome Disorder 93434 Spondylodysplastic dysplasia Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Spondylodysplastic dysplasia 168609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure 8192 Inactive 256 Deprecated entity 1 Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure Etiological subtype Subtype of disorder 90641 Rare mitochondrial non-syndromic sensorineural deafness Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Rare mitochondrial non-syndromic sensorineural deafness 168606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606 Seborrhea-like dermatitis with psoriasiform elements 1 Disease Disorder OMIM 610227 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1853258 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 L21.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C565217 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012446 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms. 1155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1155 OBSOLETE: Arthrogryposis due to muscular dystrophy 8192 Inactive 16 Obsolete entity Disease Disorder 1037 Arthrogryposis multiplex congenita Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Arthrogryposis multiplex congenita 168549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 Axial spondylometaphyseal dysplasia 1 Disease Disorder MONDO 0011211 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#181781948 834893572 GARD 8720 E (Exact mapping: the two concepts are equivalent) Validated OMIM 602271 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535795 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1865695 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora. 168552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome 1 Disease Disorder ICD-11 LD24.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#181781948 540787961 OMIM 607543 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535791 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5190708 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0011856 E (Exact mapping: the two concepts are equivalent) Validated GARD 8719 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. 1154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome 1 Distal arthrogryposis type 5 Distal arthrogryposis type IIB Distal arthrogryposis with ophthalmoplegia Oculomelic amyoplasia Malformation syndrome Disorder UMLS C1862472 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q68.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 4047 E (Exact mapping: the two concepts are equivalent) Validated OMIM 108145 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537737 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD26.4Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1692487835%2fother 162950585 MONDO 0007158 E (Exact mapping: the two concepts are equivalent) Validated Definition An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. 168555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555 Spondylometaphyseal dysplasia, A4 type 1 Disease Disorder UMLS C1836862 E (Exact mapping: the two concepts are equivalent) Validated OMIM 609052 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD24.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#181781948 696316924 MeSH C563803 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012185 E (Exact mapping: the two concepts are equivalent) Validated GARD 458 E (Exact mapping: the two concepts are equivalent) Validated 370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type Moved to Definition Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity. 1162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1162 NON RARE IN EUROPE: Asperger syndrome 8192 Inactive 1 32 Non-rare disease in Europe Disease Disorder ICD-10 F84.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 168558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency XY sex reversal-adrenal failure Disease Disorder ICD-10 Q56.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 613743 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C5190811 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013400 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. 168563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 1 Malformation syndrome Disorder ICD-10 Q56.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 607080 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2A.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1844256276 542811422 UMLS C5190810 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011766 E (Exact mapping: the two concepts are equivalent) Validated Definition 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. 124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 Diamond-Blackfan anemia 1 Diamond-Blackfan anemia syndrome Congenital PRCA Congenital pure red cell aplasia Disease Disorder OMIM 105650 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300946 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606129 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606164 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610629 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612527 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612528 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612561 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612562 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612563 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613308 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613309 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615550 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615909 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618313 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 D61.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 6274 E (Exact mapping: the two concepts are equivalent) Validated MeSH D029503 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062989 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618312 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618310 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617409 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617408 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0015253 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265265 E (Exact mapping: the two concepts are equivalent) Validated OMIM 620072 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 3A60.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#119196344 1355684398 Definition Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. 1232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1232 NON RARE IN EUROPE: Barrett esophagus 8192 Inactive 1 32 Non-rare disease in Europe Disease Disorder ICD-10 K22.7 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 168566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 1 Fatal mitochondrial disease due to COXPD3 Disease Disorder ICD-11 5C53.23 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#336470017 1235199648 MONDO 0012512 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E88.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 610505 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4303760 E (Exact mapping: the two concepts are equivalent) Validated Definition Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. 1310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310 Caffey disease 1 Infantile cortical hyperostosis Malformation syndrome Disorder MONDO 0007244 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10073206 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006958 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0020497 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#230405508%2fother 284169445 GARD 1051 E (Exact mapping: the two concepts are equivalent) Validated OMIM 114000 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M89.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. 168569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 H syndrome 1 Malformation syndrome Disorder ICD-10 D76.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 602782 E (Exact mapping: the two concepts are equivalent) Validated GARD 10239 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD27.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1819307779%2fother 107155297 MONDO 0011273 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1864445 E (Exact mapping: the two concepts are equivalent) Validated 254707 Faisalabad histiocytosis Moved to 254712 Familial sinus histiocytosis with massive lymphadenopathy Moved to 254723 Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome Moved to Definition A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. 168572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 Native American myopathy 1 Congenital myopathy-cleft palate-malignant hyperthermia syndrome Bailey-Bloch congenital myopathy STAC3-related congenital myopathy Malformation syndrome Disorder MONDO 0009722 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1185572073%2fother 2082852788 OMIM 255995 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538343 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1850625 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 8432 E (Exact mapping: the two concepts are equivalent) Validated Definition Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. 125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 Bloom syndrome 1 BSyn Disease Disorder GARD 915 E (Exact mapping: the two concepts are equivalent) Validated MeSH D001816 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0005859 E (Exact mapping: the two concepts are equivalent) Validated OMIM 210900 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q82.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated MedDRA 10073032 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.31 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1362501774 1838213890 MONDO 0008876 E (Exact mapping: the two concepts are equivalent) Validated Definition Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems. 90 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90 Argininemia 1 Arginase 1 deficiency Arginase deficiency Hyperargininemia Disease Disorder MONDO 0008814 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.A2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1619102598 1619102598 OMIM 207800 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020162 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268548 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062695 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 5840 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare autosomal recessive amino acid metabolism disorder characterized by variable degrees of hyperammonemia leading to progressive loss of developmental milestones and spasticity in the absence of treatment. 168443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome 512 Historical entity 1 Disease Disorder GARD 10101 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 869825501 ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0008469 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535783 E (Exact mapping: the two concepts are equivalent) Validated OMIM 183849 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1866728 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. There have been no further description in the literature since 1990. 1065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 Aniridia-cerebellar ataxia-intellectual disability syndrome 1 Gillespie syndrome Malformation syndrome Disorder OMIM 206700 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0431401 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MedDRA 10083858 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008795 E (Exact mapping: the two concepts are equivalent) Validated GARD 13 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536370 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia. 168448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168448 Spondyloepimetaphyseal dysplasia, Bieganski type 8192 Inactive 256 Deprecated entity 1 Disease Disorder 83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome 168451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome 512 Historical entity 1 SEMDAD Disease Disorder MONDO 0011124 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 601668 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 1539903110 UMLS C1866507 E (Exact mapping: the two concepts are equivalent) Validated Definition Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. 1135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1135 Arrhinia-choanal atresia-microphthalmia syndrome 8192 Inactive 256 Deprecated entity 1 Malformation syndrome Disorder GARD 8755 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015238 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1863878 E (Exact mapping: the two concepts are equivalent) Validated 2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome 168454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454 Spondyloepimetaphyseal dysplasia, Geneviève type 1 SEMD, Geneviève type SEMDG Disease Disorder ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 1383217537 GARD 10057 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535785 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C1864872 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610442 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012495 E (Exact mapping: the two concepts are equivalent) Validated Definition Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. 1146 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 Distal arthrogryposis type 1 1 Digitotalar dysmorphism DA1 Malformation syndrome Disorder ICD-11 LD26.4Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1692487835%2fother 1679749810 OMIM 618435 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C535378 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q68.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 108120 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 126050 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614335 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0220662 E (Exact mapping: the two concepts are equivalent) Validated GARD 787 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015240 E (Exact mapping: the two concepts are equivalent) Validated OMIM 619110 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported. 1143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143 Neurogenic arthrogryposis multiplex congenita 1 Disease Disorder MONDO 0008823 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD26.41 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1930990330 1594376206 OMIM 618766 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C536614 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q74.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C1859721 E (Exact mapping: the two concepts are equivalent) Validated OMIM 208100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 790 E (Exact mapping: the two concepts are equivalent) Validated Definition A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. 168486 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486 OBSOLETE: Congenital neuronal ceroid lipofuscinosis 8192 Inactive 16 Obsolete entity OBSOLETE: Congenital NCL Disease Disorder 216 Neuronal ceroid lipofuscinosis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Neuronal ceroid lipofuscinosis 168491 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491 OBSOLETE: Late infantile neuronal ceroid lipofuscinosis 8192 Inactive 16 Obsolete entity OBSOLETE: Late infantile NCL OBSOLETE: Jansky-Bielschowsky disease OBSOLETE: LINCL Disease Disorder 216 Neuronal ceroid lipofuscinosis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Neuronal ceroid lipofuscinosis 168544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544 Spondylometaphyseal dysplasia, Golden type 512 Historical entity 1 X-linked spondylometaphyseal dysplasia Disease Disorder GARD 8343 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#181781948 840695879 OMIM 313420 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0010738 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0796172 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare spondylometaphyseal dysplasia characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. There have been no further description in the literature since 1977. 1147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 Sheldon-Hall syndrome 1 SSH DA2B Distal arthrogryposis type 2B Freeman-Sheldon syndrome variant Distal arthrogryposis multiplex congenita type 2B Malformation syndrome Disorder OMIM 108120 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MONDO 0011128 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618436 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616266 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LD26.4Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1692487835%2fother 1206883656 OMIM 618435 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601680 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 Q68.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C538400 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1834523 E (Exact mapping: the two concepts are equivalent) Validated Definition A form of distal arthrogryposis characterized by multiple congenital non-progressive contractures of the distal joints of the limbs, in the absence of a primary neurological and/or muscle disease, and distinctive facial features, such as a triangular face shape, downslanting palpebral fissures, small mouth and high arched palate. 246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 Postaxial acrofacial dysostosis 1 Miller syndrome POADS Acrofacial dysostosis, Genee-Wiedemann type Mandibulofacial dysostosis with postaxial limb anomalies Postaxial acrodysostosis Malformation syndrome Disorder MONDO 0009903 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537680 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265257 E (Exact mapping: the two concepts are equivalent) Validated OMIM 263750 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD25.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1702160042 70602060 ICD-10 Q75.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 8410 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia. 1819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1819 OBSOLETE: Epimetaphyseal skeletal dysplasia 8192 Inactive 16 Obsolete entity Malformation syndrome Disorder 93430 Multiple metaphyseal dysplasia Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Multiple metaphyseal dysplasia 1770 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 XY type gonadal dysgenesis-associated anomalies syndrome 512 Historical entity 1 Malformation syndrome Disorder MONDO 0009302 E (Exact mapping: the two concepts are equivalent) Validated GARD 2541 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q99.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 618419 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1856272 E (Exact mapping: the two concepts are equivalent) Validated MeSH C565536 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare syndrome with 46,XY difference of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. 1775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 Dyskeratosis congenita 1 DC DKC Zinsser-Engman-Cole syndrome Disease Disorder OMIM 620040 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620133 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 127550 E (Exact mapping: the two concepts are equivalent) Validated OMIM 224230 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 305000 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613987 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613988 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613989 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613990 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0015780 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615190 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616353 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0265965 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3A70.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#350719523 1531033936 GARD 10905 E (Exact mapping: the two concepts are equivalent) Validated MeSH D019871 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062759 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q82.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated Definition A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. 1764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 Familial dysautonomia 1 HSAN3 Hereditary sensory and autonomic neuropathy type 3 Riley-Day syndrome Hereditary sensory and autonomic neuropathy type III Disease Disorder GARD 7581 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0013364 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10039179 E (Exact mapping: the two concepts are equivalent) Validated OMIM 223900 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G90.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 8C21.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#831377479 831377479 MONDO 0009131 E (Exact mapping: the two concepts are equivalent) Validated MeSH D004402 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy. 235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 Dubowitz syndrome 1 Malformation syndrome Disorder GARD 6290 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535718 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0175691 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10059589 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009124 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD27.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1156567558%2fother 758537040 ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 223370 E (Exact mapping: the two concepts are equivalent) Validated Definition Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. 239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 Dyggve-Melchior-Clausen disease 1 Disease Disorder GARD 6295 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009130 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265286 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 21266164 MeSH C535726 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 223800 E (Exact mapping: the two concepts are equivalent) Validated OMIM 304950 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests) 167762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167762 Rare disease with dentinogenesis imperfecta 1 Category Group of disorders UMLS C5680464 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 1672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1672 Diencephalic syndrome 1 Diencephalic cachexia Diencephalic syndrome of childhood Diencephalic syndrome of emaciation Russell diencephalic cachexia Russell syndrome Disease Disorder GARD 6276 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C72.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 5A61.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#292840069%2fother 879659089 MONDO 0015663 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10087520 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0342436 E (Exact mapping: the two concepts are equivalent) Validated Definition Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors. 167759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167759 Hereditary dentin defect 1 Category Group of disorders UMLS C5680465 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of rare disorders comprises dentinogenesis imperfecta and dentin dysplasia characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. Clinically, the teeth are discolored and exhibit structural defects, such as bulbous crowns and small pulp chambers on radiographs. The underlying mineralization defect often results in shearing of the overlying enamel, leaving weakened dentin exposed and prone to wear. 833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 Encephalopathy due to sulfite oxidase deficiency 1 Disease Disorder MONDO 0019358 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4275019 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.B NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#67872354 681037681 OMIM 252150 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 252160 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 272300 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615501 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 E72.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated Definition Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. 167714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167714 Unclassified acute myeloid leukemia 1 Unclassified AML Category Group of disorders GARD 12760 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5679583 E (Exact mapping: the two concepts are equivalent) Validated OMIM 601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 167635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635 Scleromyxedema 1 Arndt-Gottron disease Generalized lichenoid papular eruption Generalized papular and sclerodermoid lichen myxedematosus Disease Disorder ICD-11 EB90.11 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#15830032 286724475 ICD-10 L98.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated MONDO 0015665 E (Exact mapping: the two concepts are equivalent) Validated GARD 7615 E (Exact mapping: the two concepts are equivalent) Validated MeSH D053718 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0263390 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common. 765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 Pyruvate dehydrogenase deficiency 1 PDH PDHC Pyruvate dehydrogenase complex deficiency Disease Disorder ICD-11 5C53.02 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1124597954 1124597954 OMIM 245348 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 245349 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 246900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 312170 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608782 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614111 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 7513 E (Exact mapping: the two concepts are equivalent) Validated MeSH D015325 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10084109 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0034345 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E74.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0019169 E (Exact mapping: the two concepts are equivalent) Validated Definition Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. 395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 MTHFR deficiency Methylene tetrahydrofolate reductase deficiency Disease Disorder MONDO 0009353 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10070309 E (Exact mapping: the two concepts are equivalent) Validated OMIM 236250 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1856061 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH C537357 E (Exact mapping: the two concepts are equivalent) Validated GARD 2734 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C63.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2081529009 1119975297 Definition Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations. 408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408 Isolated glycerol kinase deficiency 1 Hyperglycerolemia Disease Disorder MeSH C538138 E (Exact mapping: the two concepts are equivalent) Validated OMIM 307030 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E74.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0018459 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0574108 E (Exact mapping: the two concepts are equivalent) Validated GARD 2807 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#61192754 542432712 Definition Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD). 148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 Multiple carboxylase deficiency 1 MCD Clinical group Group of disorders GARD 3824 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0026755 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10028176 E (Exact mapping: the two concepts are equivalent) Validated MeSH D009100 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015454 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. 147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147 Carbamoyl-phosphate synthetase 1 deficiency 1 CPS1 deficiency CPS1D Carbamoyl-phosphate synthetase I deficiency Carbamoyl-phosphate synthetase deficiency Disease Disorder UMLS C0751753 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020165 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.A1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#327894003 327894003 MONDO 0009376 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10058297 E (Exact mapping: the two concepts are equivalent) Validated OMIM 237300 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 7269 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. 23 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 Argininosuccinic aciduria 1 ASA deficiency ASL deficiency Argininosuccinase deficiency Argininosuccinatelyase deficiency Argininosuccinic acid lyase deficiency Disease Disorder GARD 5843 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.A0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#439383288 439383288 MeSH D056807 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268547 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0008815 E (Exact mapping: the two concepts are equivalent) Validated OMIM 207900 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10058299 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction. 45 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 Adenosine monophosphate deaminase deficiency 1 AMP deaminase deficiency Myoadenylate deaminase deficiency Disease Disorder MONDO 0013028 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612874 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615511 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C2931781 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C55.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1958565793%2fother 550341491 MeSH C538234 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 547 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. 166775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect 1 Rare bleeding disorder due to an acquired coagulation factor defect Rare coagulopathy due to an acquired coagulation factor defect Category Group of disorders UMLS C5679584 E (Exact mapping: the two concepts are equivalent) Validated 73274 OBSOLETE: Acquired hemophilia Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 Dihydropteridine reductase deficiency 1 Hyperphenylalaninemia due to dihydropteridine reductase deficiency PKU type 2 Phenylketonuria type 2 Clinical subtype Subtype of disorder ICD-11 5C59.01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1801446733 1931239861 UMLS C0268465 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 261630 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009862 E (Exact mapping: the two concepts are equivalent) Validated GARD 4319 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) recycling deficiency, leading to central dopamine and serotonin deficiency, clinically characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Some patients may present refractory neurological symptoms like a degree of developmental delay, epilepsy and brain abnormalities. 217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217 Isolated Dandy-Walker malformation 1 Morphological anomaly Disorder GARD 6242 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009072 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q03.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 220200 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931867 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA06.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#993088960 993088960 Definition A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. 1564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1564 Dandy-Walker malformation-facial hemangioma syndrome 8192 Inactive 256 Deprecated entity 1 Malformation syndrome Disorder 42775 PHACE syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PHACE syndrome 1556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556 Cutis marmorata telangiectatica congenita 1 CMTC Malformation syndrome Disorder ICD-11 LC52 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#776465804 1359154853 OMIM 219250 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536226 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0345419 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q82.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 6228 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009055 E (Exact mapping: the two concepts are equivalent) Validated Definition Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin. 1538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 1 Braddock-Jones-Superneau syndrome Malformation syndrome Disorder GARD 998 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 572762574 OMIM 123155 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q03.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0007401 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4304196 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. 1496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 Corpus callosum agenesis-neuronopathy syndrome 1 Andermann syndrome Charlevoix disease Disease Disorder ICD-11 LD20.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1800958996%2fother 1443432032 MONDO 0000902 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536446 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0795950 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G60.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 218000 E (Exact mapping: the two concepts are equivalent) Validated GARD 1537 E (Exact mapping: the two concepts are equivalent) Validated 207031 OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy Referred to Definition A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait. 417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 Neonatal severe primary hyperparathyroidism 1 NSHPT Disease Disorder GARD 2838 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009397 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1832615 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618188 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C563375 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A51.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#817194045 1929875111 ICD-10 E21.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 239200 E (Exact mapping: the two concepts are equivalent) Validated Definition Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. 2233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome 512 Historical entity 1 Cantalamessa-Baldini-Ambrosi syndrome Disease Disorder GARD 1078 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537981 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931685 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016385 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD2F.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864 Definition This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. 2248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248 Hypoplastic left heart syndrome 1 HLHS Morphological anomaly Disorder ICD-11 LA89.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1811800027 1811800027 GARD 6739 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0004933 E (Exact mapping: the two concepts are equivalent) Validated MeSH D018636 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0152101 E (Exact mapping: the two concepts are equivalent) Validated OMIM 241550 E (Exact mapping: the two concepts are equivalent) Validated OMIM 614435 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10021076 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q23.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output. 446 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 Neonatal hemochromatosis 1 Disease Disorder MedDRA 10078355 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009275 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C64.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#783417456 1476368232 OMIM 231100 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536394 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268059 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E83.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 7172 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare iron storage disorder present at birth characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. It is a distinct entity that differs from other forms of hemochromatosis with respect to its pathogenesis and molecular origin. 2135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 Cutaneous mastocytosis-deafness-microtia syndrome 1 Mastocytosis-short stature-hearing loss syndrome Cutaneous mastocytosis-hearing loss-microtia syndrome Mastocytosis-short stature-deafness syndrome Malformation syndrome Disorder ICD-10 Q82.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4302582 E (Exact mapping: the two concepts are equivalent) Validated GARD 3409 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009569 E (Exact mapping: the two concepts are equivalent) Validated OMIM 248910 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. 2140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 Congenital diaphragmatic hernia 1 CDH Morphological anomaly Disorder GARD 1481 E (Exact mapping: the two concepts are equivalent) Validated MeSH D065630 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0235833 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10010439 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q79.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 LB00.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1414428936 1414428936 MONDO 0005711 E (Exact mapping: the two concepts are equivalent) Validated OMIM 142340 E (Exact mapping: the two concepts are equivalent) Validated OMIM 222400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 306950 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610187 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension. 2185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185 Congenital hydrocephalus 1 Malformation syndrome Disorder OMIM 618570 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617967 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LA04 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1878746673 1878746673 GARD 6682 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016349 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q03.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q03.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q03.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 236600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615219 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0020256 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10010506 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q03.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly. 2113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2113 Congenital hypothalamic hamartoma syndrome 8192 Inactive 256 Deprecated entity 1 CHHS Malformation syndrome Disorder 672 Pallister-Hall syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pallister-Hall syndrome 2116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 Hartnup disease 1 Aminoaciduria, Hartnup type Hartnup disorder Disease Disorder MONDO 0009324 E (Exact mapping: the two concepts are equivalent) Validated MeSH D006250 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0018609 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10019165 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E72.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 6569 E (Exact mapping: the two concepts are equivalent) Validated OMIM 234500 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C60.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1631611896%2fother 871897464 Definition A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). 2118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 Hawkinsinuria 1 4-HPPD deficiency 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency Disease Disorder ICD-11 5C50.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1842978338%2fother 786595759 ICD-10 E70.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 5668 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007700 E (Exact mapping: the two concepts are equivalent) Validated MeSH C535845 E (Exact mapping: the two concepts are equivalent) Validated OMIM 140350 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931042 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. 167848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167848 Rare cardiomyopathy 1 Category Group of disorders MeSH D009202 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680467 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10007636 E (Exact mapping: the two concepts are equivalent) Validated 90022 OBSOLETE: Cardiomyopathy-renal anomalies syndrome Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 Galactosialidosis 1 Goldberg syndrome Neuraminidase deficiency with beta-galactosidase deficiency Disease Disorder MeSH C536411 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E77.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0009737 E (Exact mapping: the two concepts are equivalent) Validated GARD 3953 E (Exact mapping: the two concepts are equivalent) Validated OMIM 256540 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268233 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10083306 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.21 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1805681916 1838660035 Definition Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. 374 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=374 Goldenhar syndrome 8192 Inactive 256 Deprecated entity 1 Facioauriculovertebral sequence Malformation syndrome Disorder MeSH D006053 E (Exact mapping: the two concepts are equivalent) Validated 141132 Oculo-auriculo-vertebral spectrum Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculo-auriculo-vertebral spectrum 2020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 Congenital fiber-type disproportion myopathy 1 CFTDM Disease Disorder ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 300580 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 255310 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617760 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619967 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0546264 E (Exact mapping: the two concepts are equivalent) Validated GARD 6161 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#514523225 311083557 MONDO 0009711 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. 2005 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2005 OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome 8192 Inactive 16 Obsolete entity OBSOLETE: Novak syndrome Malformation syndrome Disorder 93941 Laryngotracheoesophageal cleft type 4 Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Laryngotracheoesophageal cleft type 4 2053 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 Freeman-Sheldon syndrome 1 Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Distal arthrogryposis type 2A Whistling face syndrome Freeman-Burian syndrome Malformation syndrome Disorder MeSH C535483 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265224 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 193700 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 277720 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 6466 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008675 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD26.4Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1692487835%2fother 1314169421 MedDRA 10073655 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. 1931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931 Frontal encephalocele 1 Anterior encephalocele Clinical subtype Subtype of disorder ICD-10 Q01.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0431289 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1520916568 1375023725 MONDO 0016020 E (Exact mapping: the two concepts are equivalent) Validated 295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 Fetal parvovirus syndrome 1 Mother-to-child transmission of parvovirus syndrome Parvovirus antenatal infection Malformation syndrome Disorder MONDO 0017453 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 P35.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C536301 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 KA62.7 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#648536096 648536096 GARD 4236 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931167 E (Exact mapping: the two concepts are equivalent) Validated Definition Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis. 1933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 1 Booth-Haworth-Dilling syndrome Mitochondrial encephalomyopathy-aminoacidopathy syndrome mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Disease Disorder ICD-10 G71.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 612073 E (Exact mapping: the two concepts are equivalent) Validated GARD 3681 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C53.20 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1159345506 1143431651 UMLS C2749864 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012791 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria. 1880 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880 Ebstein malformation of the tricuspid valve 1 Ebstein anomaly of the tricuspid valve Morphological anomaly Disorder ICD-11 LA87.03 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#307157712 307157712 MONDO 0009144 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q22.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D004437 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0013481 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10014075 E (Exact mapping: the two concepts are equivalent) Validated OMIM 224700 E (Exact mapping: the two concepts are equivalent) Validated GARD 6313 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall. 255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 Dopa-responsive dystonia 1 HPD with diurnal fluctuation Hereditary progressive dystonia with diurnal fluctuation Clinical group Group of disorders MedDRA 10080034 E (Exact mapping: the two concepts are equivalent) Validated GARD 12144 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016812 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A02.11 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#378693810 1534901505 MeSH C538007 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1851920 E (Exact mapping: the two concepts are equivalent) Validated Definition Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. 1915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 Fetal alcohol syndrome 1 ARBD ARND Alcohol-related birth defects Alcohol-related neurodevelopmental disorder FAS FASD Fetal alcohol spectrum disorders Malformation syndrome Disorder MONDO 0016011 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#362980699 362980699 MeSH D063647 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0015923 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10016845 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q86.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). 1885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 Isolated ectopia lentis 1 Ectopia lentis syndrome Familial ectopia lentis Malformation syndrome Disorder MeSH D004479 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10014145 E (Exact mapping: the two concepts are equivalent) Validated OMIM 129600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 225100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 225200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 Q12.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 12251 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015998 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA12.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1568007102%2fother 623082744 UMLS C1851286 E (Exact mapping: the two concepts are equivalent) Validated Definition Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. 1851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851 Multicystic dysplastic kidney 1 MCDK Multicystic renal dysplasia Morphological anomaly Disorder UMLS C3714581 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB30.9 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1178642763 1178642763 MeSH D021782 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015988 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q61.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated Definition A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. 660 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660 Omphalocele 1 Morphological anomaly Disorder ICD-11 LB01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1168696429 1168696429 MeSH D006554 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0019015 E (Exact mapping: the two concepts are equivalent) Validated OMIM 164750 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 310980 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10030308 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q79.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0795690 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac. 180312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180312 Rare vulvovaginal tumor 1 Category Group of disorders UMLS C5680468 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635 Neuroblastoma 1 Disease Disorder MONDO 0005072 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 XH85Z0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#883278510 883278510 GARD 7185 E (Exact mapping: the two concepts are equivalent) Validated MeSH D009447 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613016 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613017 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0027819 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10029260 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C74.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated OMIM 616792 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 256700 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613013 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613014 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613015 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 2A00.11 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1711526170 1323582265 Definition A rare embryonal tumor of neuroepithelial tissue arising from neural crest cells, typically presenting in infancy or early childhood. Its symptoms depend on tumor stage and location along the sympathetic nervous system, ranging from localized masses to metastatic disease involving the bone, bone marrow, liver, lymph nodes, lung, central nervous system, or skin. Unlike more benign peripheral neuroblastic tumors (intermixed ganglioneuroblastoma and ganglioneuroma), neuroblastoma is characterized by its potential for aggressive invasion and metastases. 2612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 Linear nevus sebaceus syndrome 1 Nevus sebaceus of Jadassohn Nevus sebaceus syndrome Organoid nevus syndrome Schimmelpenning syndrome Solomon syndrome Disease Disorder MONDO 0008097 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4552097 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2D.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1427672516%2fother 83975438 GARD 10291 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q85.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 163200 E (Exact mapping: the two concepts are equivalent) Validated MeSH D054000 E (Exact mapping: the two concepts are equivalent) Validated 2694 OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome Referred to Definition A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system. 2635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 Metatropic dysplasia 1 Metatropic dwarfism Disease Disorder MedDRA 10082970 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 1195885063 MONDO 0007986 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 3571 E (Exact mapping: the two concepts are equivalent) Validated OMIM 156530 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537356 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265281 E (Exact mapping: the two concepts are equivalent) Validated 93427 OBSOLETE: Metatropic dysplasias Referred to Definition Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. 2655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 Thanatophoric dysplasia 1 TD Disease Disorder ICD-11 LD24.02 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1668919215 1668919215 UMLS C0039743 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10089187 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D013796 E (Exact mapping: the two concepts are equivalent) Validated GARD 85 E (Exact mapping: the two concepts are equivalent) Validated OMIM 156830 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 187600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 187601 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0017042 E (Exact mapping: the two concepts are equivalent) Validated Definition A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. 180303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180303 Rare non-malformative uterine adnexal disease 1 Category Group of disorders UMLS C5681841 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 Proximal myotonic myopathy 1 Myotonic dystrophy type 2 Proximal myotonic dystrophy Ricker disease Ricker syndrome Disease Disorder ICD-11 8C71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#192087511 1005849639 ICD-10 G71.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0011266 E (Exact mapping: the two concepts are equivalent) Validated GARD 9728 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931689 E (Exact mapping: the two concepts are equivalent) Validated OMIM 602668 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders. 705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 Pendred syndrome 1 Goiter-deafness syndrome Goiter-hearing loss syndrome Malformation syndrome Disorder MeSH C536648 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0271829 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E07.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MedDRA 10080398 E (Exact mapping: the two concepts are equivalent) Validated OMIM 274600 E (Exact mapping: the two concepts are equivalent) Validated GARD 4271 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A00.02 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1156056623 1156056623 MONDO 0010134 E (Exact mapping: the two concepts are equivalent) Validated Definition A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter. 180779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180779 Syndromic diaphragmatic or thoracic malformation 1 Category Group of disorders UMLS C5680469 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2870 NON RARE IN EUROPE: Peyronie syndrome 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Induratio penis plastica NON RARE IN EUROPE: Plastic induration of penis Disease Disorder ICD-10 N48.6 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 180776 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180776 Non-syndromic diaphragmatic or thoracic malformation 1 Category Group of disorders UMLS C5680470 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2801 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801 Juvenile Paget disease 1 Familial osteoectasia Hereditary hyperphosphatasia JPG Hyperostosis corticalis deformans juvenilis Malformation syndrome Disorder ICD-11 FB85.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#762002965 762002965 MONDO 0009394 E (Exact mapping: the two concepts are equivalent) Validated GARD 2831 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M88.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-10 M88.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 239000 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M88.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0268414 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537701 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10078977 E (Exact mapping: the two concepts are equivalent) Validated Definition Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss. 884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 Pallister-Killian syndrome 1 Isochromosome 12p mosaicism Isochromosome 12p syndrome Malformation syndrome Disorder ICD-11 LD7Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#939957586%2fother 1495552441 GARD 8421 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011146 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10080297 E (Exact mapping: the two concepts are equivalent) Validated OMIM 601803 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265449 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q99.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C538105 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare chromosomal anomaly characterized by variable developmental delay with intellectual disability, epilepsy, pigmentary skin anomalies and characteristic facial features usually caused by mosaic tetrasomy of the short arm of chromosome&nbsp;12. A wide range of pulmonary, cardiac, renal, gastrointestinal, genitourinary, ophtalmologic and auditory features are also associated. 180772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180772 Rare disease with autism 1 Category Group of disorders GARD 10248 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680471 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 180766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180766 Malformative syndrome with dentinogenesis imperfecta 1 Category Group of disorders UMLS C5680472 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2785 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 Osteopetrosis with renal tubular acidosis 1 Carbonic anhydrase 2 deficiency Guibaud-Vainsel syndrome Marble brain disease Mixed RTA Mixed renal tubular acidosis Renal tubular acidosis type 3 Disease Disorder UMLS C0345407 E (Exact mapping: the two concepts are equivalent) Validated GARD 4154 E (Exact mapping: the two concepts are equivalent) Validated OMIM 259730 E (Exact mapping: the two concepts are equivalent) Validated OMIM 267200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Not yet validated MeSH C536058 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 9818 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009818 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1498426606 1187356117 Definition Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. 2744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 Horizontal gaze palsy with progressive scoliosis 1 HGPPS Progressive external ophthalmoplegia and scoliosis Disease Disorder MONDO 0011810 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617542 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C1846496 E (Exact mapping: the two concepts are equivalent) Validated GARD 12682 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 9C83.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1957797114 226403142 ICD-10 H49.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 607313 E (Exact mapping: the two concepts are equivalent) Validated 50817 Duane anomaly-myopathy-scoliosis syndrome Moved to Definition Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla. 2746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 Opsismodysplasia 1 Disease Disorder GARD 4098 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD24.5Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#329165933%2fother 2147268863 MeSH C537122 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0432219 E (Exact mapping: the two concepts are equivalent) Validated OMIM 258480 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009785 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare skeletal dysplasia characterized by pre-or postnatal severe rhizomelic micromelia with short long bones (congenital dwarfism), extremely short feet and hands, major delay in skeletal ossification, metaphyseal cupping, severe platyspondyly, muscular hypotonia and facial dysmorphism (including macrocephaly, large anterior fontanelle, arched and prominent eyebrows, hypertelorism, exophthalmos, depressed nasal bridge, small anteverted nose with relatively broad nares, long philtrum and thin upper lip). Patients also present with short neck, narrow, bell-shaped thorax. Circumferential skin creases (especially in the upper arms, hands, and feet) and recurrent respiratory tract infections (that followed a fatal course in some cases) have also been reported. 2971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 Peroxisomal acyl-CoA oxidase deficiency 1 Pseudo-NALD Pseudo-neonatal adrenoleukodystrophy Pseudoadrenoleukodystrophy Disease Disorder ICD-11 5C57.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1092479335 927825451 MONDO 0009919 E (Exact mapping: the two concepts are equivalent) Validated GARD 4543 E (Exact mapping: the two concepts are equivalent) Validated OMIM 264470 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536662 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1849678 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E71.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. 2970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 Prune belly syndrome 1 Abdominal muscle deficiency syndrome Eagle-Barret syndrome Obrinsky syndrome Triad syndrome Malformation syndrome Disorder ICD-11 LD2F.10 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1393408621 1393408621 OMIM 100100 E (Exact mapping: the two concepts are equivalent) Validated MeSH D011535 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0033770 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10051025 E (Exact mapping: the two concepts are equivalent) Validated GARD 7479 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q79.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0007032 E (Exact mapping: the two concepts are equivalent) Validated 93178 OBSOLETE: Partial prune belly syndrome Referred to Definition A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males. 744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 Proteus syndrome 1 Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome Malformation syndrome Disorder ICD-11 LD2C NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2113355045 760267333 ICD-10 Q87.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 176920 E (Exact mapping: the two concepts are equivalent) Validated MeSH D016715 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0085261 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10074067 E (Exact mapping: the two concepts are equivalent) Validated GARD 7475 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008318 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare complex overgrowth syndrome characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. 2903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903 Familial spontaneous pneumothorax 1 Disease Disorder MONDO 0008259 E (Exact mapping: the two concepts are equivalent) Validated GARD 4997 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 J93.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 173600 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 CB21.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2003193382 319022944 UMLS C4275252 E (Exact mapping: the two concepts are equivalent) Validated Definition Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated. 2901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2901 Neuralgic amyotrophy 1 Acute brachial plexus neuritis Brachial plexus neuritis Immune brachial plexus neuropathy Mononeuritis multiplex with brachial predilection Neuralgic shoulder amyotrophy Disease Disorder ICD-11 8B91.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#302246011 302246011 MedDRA 10029229 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G54.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 162100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0017362 E (Exact mapping: the two concepts are equivalent) Validated GARD 4228 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020968 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1510479 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. 718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718 Isolated Pierre Robin sequence 1 PRS Malformation syndrome Disorder MONDO 0009869 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0031900 E (Exact mapping: the two concepts are equivalent) Validated GARD 4347 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA56 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#136361299 136361299 ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 261800 E (Exact mapping: the two concepts are equivalent) Validated MeSH D010855 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction. 180821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180821 Rare gastroesophageal tumor 1 Category Group of disorders UMLS C5680473 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 180824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180824 Rare tumor of pancreas 1 Rare pancreatic tumor Category Group of disorders UMLS C5679585 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10061902 E (Exact mapping: the two concepts are equivalent) Validated GARD 9364 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717 OBSOLETE: Catecholamine-producing tumor 8192 Inactive 16 Obsolete entity Category Group of disorders 100091 Adrenal/paraganglial tumor Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Adrenal/paraganglial tumor 181387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism 1 Category Group of disorders UMLS C5680474 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290 Congenital rubella syndrome 1 Mother-to-child transmission of rubella syndrome CRS Fetal rubella syndrome Disease Disorder ICD-11 KA62.8 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1059053724 1059053724 MeSH D012410 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0035921 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10083496 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 P35.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0017361 E (Exact mapping: the two concepts are equivalent) Validated GARD 4744 E (Exact mapping: the two concepts are equivalent) Validated Definition An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. 3071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 Costello syndrome 1 FCS syndrome Faciocutaneoskeletal syndrome Malformation syndrome Disorder MeSH D056685 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0587248 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10067380 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 1946512039 GARD 1550 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009026 E (Exact mapping: the two concepts are equivalent) Validated OMIM 218040 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway. 181390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature 1 Category Group of disorders UMLS C5680475 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 181381 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181381 Other rare diabetes mellitus 1 Category Group of disorders UMLS C5680476 E (Exact mapping: the two concepts are equivalent) Validated 98167 OBSOLETE: Diabetes associated to exocrine pancreas neoplasia Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 181384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181384 Rare hypothalamic or pituitary disease 1 Category Group of disorders UMLS C5680477 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 181371 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181371 Rare diabetes mellitus type 1 1 Rare insulin-dependent diabetes mellitus Category Group of disorders UMLS C5679586 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 Pycnodysostosis 1 Pyknodysostosis Disease Disorder MedDRA 10082973 E (Exact mapping: the two concepts are equivalent) Validated GARD 4611 E (Exact mapping: the two concepts are equivalent) Validated MeSH D058631 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0238402 E (Exact mapping: the two concepts are equivalent) Validated OMIM 265800 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009940 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 5C56.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#656131403%2fother 1329974152 Definition Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones. 181376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181376 Rare diabetes mellitus type 2 1 Rare insulin-independent diabetes mellitus Category Group of disorders UMLS C5679587 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2983 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 Difference of sex development-intellectual disability syndrome 512 Historical entity 1 Verloes-Gillerot-Fryns syndrome Disorder of sex development-intellectual disability syndrome Disease Disorder MONDO 0010824 E (Exact mapping: the two concepts are equivalent) Validated GARD 4550 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931233 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536539 E (Exact mapping: the two concepts are equivalent) Validated OMIM 600122 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q56.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. There have been no further descriptions in the literature since 1994. 2982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2982 46,XX difference of sex development 1 46,XX DSD 46,XX disorder of sex development Category Group of disorders MONDO 0017576 E (Exact mapping: the two concepts are equivalent) Validated MeSH D058489 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2936403 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 181368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181368 Rare insulin-resistance syndrome 1 Category Group of disorders ICD-11 5A44 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1736778 1736778 UMLS C5680478 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2981 Pseudo-Zellweger syndrome 8192 Inactive 256 Deprecated entity 1 Thiolase deficiency Disease Disorder MeSH C535818 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1533628 E (Exact mapping: the two concepts are equivalent) Validated 300 Bifunctional enzyme deficiency Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bifunctional enzyme deficiency 180202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180202 Rare non-malformative breast disease 1 Category Group of disorders UMLS C5680479 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 Congenital short bowel syndrome 1 Morphological anomaly Disorder MONDO 0014097 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5441717 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300048 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615237 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q43.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LB15.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1672462112 1672462112 Definition Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. 180199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180199 Rare non-malformative gynecologic or obstetric disease 1 Category Group of disorders UMLS C5680480 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 Hereditary fructose intolerance 1 Hereditary fructose-1-phosphate aldolase deficiency Hereditary fructosemia Disease Disorder GARD 6622 E (Exact mapping: the two concepts are equivalent) Validated MeSH D005633 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10019878 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E74.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0009249 E (Exact mapping: the two concepts are equivalent) Validated OMIM 229600 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.50 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1925240365 1925240365 UMLS C0016751 E (Exact mapping: the two concepts are equivalent) Validated Definition Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. 180208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180208 Anomaly of puberty or/and menstrual cycle 1 Category Group of disorders UMLS C5680481 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 Jacobsen syndrome 1 Chromosome 11q deletion syndrome Del(11)(q23.3) Del(11)(qter) Distal deletion 11q Distal monosomy 11q Monosomy 11qter Telomeric deletion 11q 11q terminal deletion syndrome Malformation syndrome Disorder GARD 307 E (Exact mapping: the two concepts are equivalent) Validated MeSH D054868 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0795841 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 147791 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD44.B0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#237602200 27788176 MONDO 0007838 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic disorder caused by deletions in the long arm of chromosome 11 (<i>11q</i>) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. 180205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180205 Rare non-malformative uterovaginal or vulvovaginal disease 1 Category Group of disorders UMLS C5681842 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 Joubert syndrome with oculorenal defect 1 Arima syndrome CORS Dekaban-Arima syndrome JS type B JS-OR Joubert syndrome with Senior-Loken syndrome Cerebellooculorenal syndrome Malformation syndrome Disorder OMIM 243910 E (Exact mapping: the two concepts are equivalent) Validated OMIM 608091 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610188 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612285 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614424 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614465 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614844 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MONDO 0009480 E (Exact mapping: the two concepts are equivalent) Validated GARD 9455 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q04.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD20.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1488858760%2fother 397835469 MeSH C537430 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1855675 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. 2253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253 Foveal hypoplasia-presenile cataract syndrome 1 O'Donnell-Pappas syndrome Disease Disorder GARD 406 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931644 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537858 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 H26.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 136520 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated ICD-11 9C2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#503601360%2fother 1027678248 MONDO 0016395 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. 180188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180188 Isolated congenital breast hypoplasia/aplasia 1 Isolated congenital amastia Morphological anomaly Disorder MONDO 0015855 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562989 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB60 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#866434212 866434212 UMLS C0432357 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q83.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 9489 E (Exact mapping: the two concepts are equivalent) Validated OMIM 113700 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616001 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies. 180182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180182 Supernumerary breasts 1 Accessory breasts Polymastia Morphological anomaly Disorder MONDO 0015854 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB62 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1458532658 1458532658 MedDRA 10049786 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q83.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0266010 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life. 180193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180193 Syndromic breast hypoplasia/aplasia 1 Category Group of disorders MONDO 0015856 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680482 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300 Isolated multiple intestinal atresia 1 Morphological anomaly Disorder MONDO 0009465 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q41.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 3013 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562441 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0220744 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10028210 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB15.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1949256262 1174006018 Definition Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. 180226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180226 Embryonal carcinoma 1 Disease Disorder ICD-10 C22.7 BTNT (ORPHAcode is broader than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-10 C71.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D018236 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0005440 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0206659 E (Exact mapping: the two concepts are equivalent) Validated GARD 5140 E (Exact mapping: the two concepts are equivalent) Validated 502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 Trichorhinophalangeal syndrome type 2 1 Langer-Giedion syndrome Malformation syndrome Disorder MONDO 0007874 E (Exact mapping: the two concepts are equivalent) Validated GARD 7801 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.80 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#315453775 315453775 MeSH D015826 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0023003 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10050638 E (Exact mapping: the two concepts are equivalent) Validated OMIM 150230 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare multiple congenital anomalies syndrome characterized by intellectual disability, short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia) and multiple cartilaginous exostoses. 180229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180229 Polyembryoma 1 Disease Disorder ICD-10 C80.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015863 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0334518 E (Exact mapping: the two concepts are equivalent) Validated GARD 9621 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated. 2370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370 Larsen-like osseous dysplasia-short stature syndrome 1 Malformation syndrome Disorder ICD-10 Q74.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 608545 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.E NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#689620137 624625365 MONDO 0012055 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4707236 E (Exact mapping: the two concepts are equivalent) Validated Definition Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. 477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 KID syndrome 1 KID/HID syndrome Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome Senter syndrome Ichthyosis hystrix Rheydt type Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome Disease Disorder ICD-10 Q80.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0265336 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536168 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10048786 E (Exact mapping: the two concepts are equivalent) Validated OMIM 148210 E (Exact mapping: the two concepts are equivalent) Validated OMIM 242150 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 602540 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LD27.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#488102959 1152535279 GARD 3113 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018781 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. 2343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2343 OBSOLETE: Isolated cloverleaf skull syndrome 8192 Inactive 16 Obsolete entity Morphological anomaly Disorder 620158 Non-syndromic non-specific multisutural craniosynostosis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Non-syndromic non-specific multisutural craniosynostosis 180220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180220 Rare uterine adnexal tumor 1 Category Group of disorders UMLS C5680483 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 OBSOLETE: Angioosteohypertrophic syndrome 8192 Inactive 16 Obsolete entity OBSOLETE: Klippel-Trénaunay-Weber syndrome Clinical group Group of disorders 68419 Rare vascular anomaly Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Rare vascular anomaly 180247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180247 Vaginal carcinoma 1 Vaginal malignant epithelial tumor Disease Disorder ICD-11 2C71 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#798353632 798353632 MONDO 0015867 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0262659 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C52 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 9348 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of rare vaginal tumors comprising HPV-associated and HPV-independent squamous cell carcinoma, glandular tumors (including HPV-associated adenocarcinoma, endometrioid carcinoma, clear cell carcinoma, gastric type and intestinal type mucinous carcinoma, and mesonephric adenocarcinoma), adenocarcinoma of Skene gland origin, adenosquamous carcinoma, and adenoid basal carcinoma. Depending on the type of tumor and disease stage, patients may present with symptoms related to a vaginal mass, vaginal bleeding and/or discharge, postcoital bleeding, urinary symptoms, pelvic pain, and a foreign body sensation within the vagina. 506 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 Leigh syndrome 1 Infantile subacute necrotizing encephalopathy Leigh disease Disease Disorder ICD-11 5C53.24 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#672871576 672871576 OMIM 256000 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009723 E (Exact mapping: the two concepts are equivalent) Validated GARD 6877 E (Exact mapping: the two concepts are equivalent) Validated MeSH D007888 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0023264 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062950 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G31.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated 70474 Leigh syndrome with cardiomyopathy Moved to 255241 Leigh syndrome with leukodystrophy Moved to 255249 Leigh syndrome with nephrotic syndrome Moved to Definition A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. 180250 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180250 Rare breast tumor 1 Category Group of disorders UMLS C5680484 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430 Congenital macroglossia 1 Malformation syndrome Disorder UMLS C0009677 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q38.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0007927 E (Exact mapping: the two concepts are equivalent) Validated OMIM 153630 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA31.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#423141418 423141418 MeSH C531735 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes. 180253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180253 Rare benign breast tumor 1 Category Group of disorders UMLS C5680485 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D24 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated 50920 OBSOLETE: Multiple fibroadenoma of the breast Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 Congenital pulmonary lymphangiectasia 1 Pulmonary lymphangiomatosis Disease Disorder UMLS C1849554 E (Exact mapping: the two concepts are equivalent) Validated OMIM 265300 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009933 E (Exact mapping: the two concepts are equivalent) Validated GARD 9900 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA75.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1749762534%2fother 2069435755 MeSH C537727 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q33.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. 2373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373 Congenital laryngomalacia 1 Malformation syndrome Disorder UMLS C0345160 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10060786 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA71.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#64182721 64182721 ICD-10 Q31.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D055092 E (Exact mapping: the two concepts are equivalent) Validated OMIM 150280 E (Exact mapping: the two concepts are equivalent) Validated GARD 6865 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007878 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress. 180234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180234 Mixed germ cell tumor 1 Disease Disorder ICD-11 XH2PS1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1277295600 1277295600 ICD-10 C80.9 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 2D4Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1594217552%2fother 618729503 MONDO 0015864 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0334524 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare germ cell tumor characterized by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumor. The tumors typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumor location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumor stage. 180237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180237 Benign tumor of fallopian tubes 1 Disease Disorder MONDO 0000645 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0346190 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053865 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D28.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 2F33 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2007399469 883442453 Definition A group of rare uterine adnexal tumors comprising non-metastasizing neoplasms arising from the fallopian tube. This includes epithelial tumors (benign serous tumors such as serous adenofibroma and papilloma) and mature teratomas. Patients may be asymptomatic or present with tubal obstruction. 2377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 Laurence-Moon syndrome 1 LMS Malformation syndrome Disorder OMIM 245800 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009514 E (Exact mapping: the two concepts are equivalent) Validated MeSH D007849 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0023138 E (Exact mapping: the two concepts are equivalent) Validated GARD 12635 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10056710 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 LD90.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#775270311%2fother 458834940 Definition A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap. 2374 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374 Isolated congenital laryngeal web 1 Malformation syndrome Disorder OMIM 150360 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10023871 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q31.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C5924995 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA71.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2041437327%2fother 1641764672 MONDO 0007880 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare laryngeal malformation characterized by a membrane-like structure of variable thickness that extends across the laryngeal lumen, between the vocal cords. 180242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180242 Malignant tumor of fallopian tubes 1 Cancer of fallopian tubes Malignant tubal tumor Tubal cancer Disease Disorder UMLS C0153579 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0002158 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10025915 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C57.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 2C74 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#459381514 459381514 2466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 MASA syndrome 1 Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome Clinical subtype Subtype of disorder GARD 6986 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010559 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8B44.02 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1613343556 1973644723 MeSH C536029 E (Exact mapping: the two concepts are equivalent) Validated OMIM 303350 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0795953 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated 85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome Moved to Definition A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. 180275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180275 Paget disease of the nipple 1 Paget's disease of the nipple Paget disease of the breast Mammary Paget disease Disease Disorder ICD-11 2E65.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1295910447 1295910447 MONDO 0015873 E (Exact mapping: the two concepts are equivalent) Validated MeSH D010144 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1704323 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10033364 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C50.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated GARD 7303 E (Exact mapping: the two concepts are equivalent) Validated Definition Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses. 560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 Marshall syndrome 1 Malformation syndrome Disorder MeSH C536025 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265235 E (Exact mapping: the two concepts are equivalent) Validated OMIM 154780 E (Exact mapping: the two concepts are equivalent) Validated GARD 6984 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD27.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1156567558%2fother 1401051186 ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0007949 E (Exact mapping: the two concepts are equivalent) Validated Definition A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. 587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=587 Muir-Torre syndrome 8192 Inactive 256 Deprecated entity 1 Multiple keratoacanthoma, Muir-Torre type Disease Disorder GARD 6821 E (Exact mapping: the two concepts are equivalent) Validated MeSH D055653 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1321489 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10063042 E (Exact mapping: the two concepts are equivalent) Validated OMIM 158320 E (Exact mapping: the two concepts are equivalent) Validated 144 Lynch syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lynch syndrome 180284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180284 NON RARE IN EUROPE: Benign ductal tumor of breast 8192 Inactive 1 32 Non-rare disease in Europe Disease Disorder This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 Moebius syndrome 1 Möbius syndrome Disease Disorder MONDO 0008006 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 1902386985 ICD-10 Q87.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 8549 E (Exact mapping: the two concepts are equivalent) Validated OMIM 157900 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020331 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0221060 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10030069 E (Exact mapping: the two concepts are equivalent) Validated Definition A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects. 1505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505 Short rib-polydactyly syndrome 1 Clinical group Group of disorders UMLS C0036996 E (Exact mapping: the two concepts are equivalent) Validated MeSH D012779 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.B0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#960900212 960900212 MONDO 0015461 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). 180257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180257 Rare malignant breast tumor 1 Rare breast cancer Category Group of disorders UMLS C5679588 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 180261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180261 Phyllodes tumor of the breast 1 Disease Disorder ICD-11 2F30.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#827143668 827143668 GARD 9514 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10011813 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D48.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH D003557 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0238031 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare fibroepithelial tumor of the breast characterized by a painless, circumscribed, firm mass potentially arising in any part of the breast, histologically showing a prominent intracanalicular growth pattern with leaf-like stromal fronds, capped by luminal epithelial and myoepithelial cell layers, accompanied by stromal hypercellularity. The tumor may be benign, borderline, or malignant. 2431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2431 Central bilateral macrogyria 8192 Inactive 256 Deprecated entity 1 Disease Disorder 98889 Bilateral perisylvian polymicrogyria Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bilateral perisylvian polymicrogyria 180267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180267 Giant adenofibroma of the breast 1 Disease Disorder MONDO 0015872 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D24 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 2F30.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#143326763 1030551440 UMLS C0346157 E (Exact mapping: the two concepts are equivalent) Validated Definition Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement. 2444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444 Congenital pulmonary airway malformation 1 CCAM CPAM Congenital cystic adenomatoid malformation of the lung Congenital cystic adenomatous malformation of the lung Congenital cystic disease of the lung Malformation syndrome Disorder ICD-10 Q33.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LA75.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2091138945 2091138945 MONDO 0016580 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0010668 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10087693 E (Exact mapping: the two concepts are equivalent) Validated MeSH D015615 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated. 612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 Potassium-aggravated myotonia 1 K+-aggravated myotonia K-aggravated myotonia PAM Clinical group Group of disorders GARD 4459 E (Exact mapping: the two concepts are equivalent) Validated OMIM 608390 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538353 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931826 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018959 E (Exact mapping: the two concepts are equivalent) Validated Definition A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. 179494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 Obesity due to leptin receptor gene deficiency 1 Etiological subtype Subtype of disorder ICD-11 5B81.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#149403041%2fother 997823205 UMLS C5191640 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013992 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E66.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 614963 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency. 716 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 Phenylketonuria 1 PKU Disease Disorder MONDO 0009861 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10034872 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 261600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated ICD-10 E70.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D010661 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0031485 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#444122923 444122923 GARD 7383 E (Exact mapping: the two concepts are equivalent) Validated 79253 Mild phenylketonuria Moved to 79254 Classic phenylketonuria Moved to Definition A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. 179490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179490 Obesity due to congenital leptin resistance 1 Etiological subtype Subtype of disorder ICD-11 5B81.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#149403041%2fother 928534681 UMLS C5680486 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E66.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated 180071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071 Unilateral aplasia of the Müllerian ducts 1 Unicornuate uterus Clinical group Group of disorders ICD-10 Q51.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0015831 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 180068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068 Partial bilateral aplasia of the Müllerian ducts 1 Incomplete bilateral aplasia of the Müllerian ducts Clinical group Group of disorders UMLS C5679589 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015830 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 180065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180065 Non-syndromic uterovaginal malformation 1 Category Group of disorders UMLS C5680487 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 Classical Ehlers-Danlos syndrome 1 Classical EDS cEDS Disease Disorder MONDO 0007522 E (Exact mapping: the two concepts are equivalent) Validated GARD 2088 E (Exact mapping: the two concepts are equivalent) Validated OMIM 130010 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 130000 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 Q79.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD28.10 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1724920772 1724920772 UMLS C4225429 E (Exact mapping: the two concepts are equivalent) Validated 75501 OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type Referred to 90309 OBSOLETE: Ehlers-Danlos syndrome type 1 Referred to 90318 OBSOLETE: Ehlers-Danlos syndrome type 2 Referred to 230845 Vascular-like classical Ehlers-Danlos syndrome Moved to Definition A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. 180062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180062 Uterovaginal malformation 1 Category Group of disorders UMLS C5680488 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 180106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106 Bicervical bicornuate uterus and blind hemivagina 1 Clinical subtype Subtype of disorder ICD-10 Q51.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LB44.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1965739367 1438264683 UMLS C5680489 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015835 E (Exact mapping: the two concepts are equivalent) Validated 180086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086 Didelphys uterus 1 Bicervical bicornuate uterus Morphological anomaly Disorder UMLS C0266393 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10012770 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q51.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0015834 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB44.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1965739367 1691111436 MeSH D000093642 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse. A longitudinal vaginal septum of variable thickness and elasticity is also present. Patients may be asymptomatic or experience dyspareunia or dysmenorrhea. There is increased frequency of endometriosis, as well as fertility and gestational issues with significantly reduced chances of seeing a pregnancy to term. The condition may be associated with renal agenesis. 180079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079 Pseudounicornuate uterus 1 Incomplete unilateral Müllerian aplasia Incomplete unilateral aplasia of the Müllerian ducts Unicornuate uterus with rudimentary horn Morphological anomaly Disorder ICD-10 Q51.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LB44.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1726108634 1698505883 MONDO 0015833 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4749300 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated. 180074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074 True unicornuate uterus 1 Complete unilateral Müllerian aplasia Complete unilateral aplasia of the Müllerian ducts Unicornuate uterus without rudimentary horn Morphological anomaly Disorder ICD-10 Q51.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015832 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB44.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1726108634 113532659 UMLS C5848180 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated. 180122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122 Septate uterus 1 Clinical group Group of disorders MONDO 0015839 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB44.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1959106408 1959106408 UMLS C0152240 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062606 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000093665 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 180118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180118 NON RARE IN EUROPE: Cordiform uterus 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Uterus arcuatus NON RARE IN EUROPE: Uterus cordiformis Morphological anomaly Disorder This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 180114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114 Unicervical bicornuate uterus 1 Morphological anomaly Disorder MONDO 0015837 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LB44.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1965739367 1308207507 UMLS C5680490 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare non-syndromic uterine malformation characterized by a uterus with two uterine horns and only one cervix, resulting from a failure in the fusion of the two Müllerian structures. Depending on the degree of the fusion deficiency, the malformation may be complete with the cavities separated up to the internal orifice of the cervix and not linked, or partial when there is some linkage. Patients may present recurrent pregnancy loss or preterm labor. 180111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111 Bicervical bicornuate uterus with patent cervix and vagina 1 Clinical subtype Subtype of disorder ICD-10 Q51.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LB44.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1965739367 1145216664 UMLS C5680491 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015836 E (Exact mapping: the two concepts are equivalent) Validated 180134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134 Bicornuate uterus 1 Clinical group Group of disorders MONDO 0015842 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0266387 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10004550 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q51.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 LB44.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1965739367 1965739367 MeSH D000093663 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 180139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139 Uterine hypoplasia 1 Morphological anomaly Disorder ICD-11 LB44.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1858530341 1858530341 UMLS C0266399 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10063146 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q51.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0015843 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility. 180126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126 Complete septate uterus 1 Total septate uterus Morphological anomaly Disorder MONDO 0015840 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB44.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1959106408 2105450595 ICD-10 Q51.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C2957116 E (Exact mapping: the two concepts are equivalent) Validated Definition Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent. 180129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129 Partial septate uterus 1 Uterus subseptus Subtotal septate uterus Morphological anomaly Disorder ICD-11 LB44.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1959106408 1463087262 MONDO 0015841 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q51.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0266401 E (Exact mapping: the two concepts are equivalent) Validated Definition Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated. 180148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180148 Syndromic uterovaginal malformation 1 Category Group of disorders UMLS C5680492 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 1020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 Early-onset autosomal dominant Alzheimer disease 1 EOFAD Early-onset familial autosomal dominant Alzheimer disease Familial Alzheimer disease Disease Disorder MONDO 0015140 E (Exact mapping: the two concepts are equivalent) Validated GARD 12798 E (Exact mapping: the two concepts are equivalent) Validated OMIM 604154 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 G30.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 104300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 104310 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 602096 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 605055 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 605526 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606187 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606889 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 607116 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 607822 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609636 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609790 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611073 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611152 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611154 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0276496 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 6D80.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#199015879 199015879 Definition Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. 180151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151 Rare vaginal malformation 1 Category Group of disorders UMLS C5680493 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 63 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 Alport syndrome 1 Alport hearing loss-nephropathy Alport deafness-nephropathy Disease Disorder MONDO 0018965 E (Exact mapping: the two concepts are equivalent) Validated MeSH D009394 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1567741 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10001843 E (Exact mapping: the two concepts are equivalent) Validated OMIM 104200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 203780 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 301050 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 LD2H.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#186534168%2fother 1170919425 GARD 5785 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. 54 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 X-linked recessive ocular albinism 1 OA1 Ocular albinism type 1 Ocular albinism, Nettleship-Falls type XLOA Disease Disorder GARD 8471 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0021019 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537863 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0342684 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300500 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E70.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 9E1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#868865918%2fother 846740259 Definition X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. 180142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142 Absence of uterine body 1 Morphological anomaly Disorder ICD-10 Q51.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 LB44.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#25664922 25664922 MONDO 15844 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015844 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5230999 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility. 180145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145 Uterine cervical aplasia and agenesis 1 Morphological anomaly Disorder MONDO 0015845 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q51.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 LB43.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1670353767 1670353767 UMLS C5190813 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems. 180160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160 Transverse vaginal septum 1 Clinical subtype Subtype of disorder ICD-10 Q52.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C1856006 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB42.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1699475508 1265288464 MONDO 0015850 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea. 154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 Familial isolated dilated cardiomyopathy 1 Familial or idiopathic dilated cardiomyopathy Disease Disorder OMIM 619897 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619747 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0015470 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618189 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619492 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619371 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613694 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613697 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613881 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614672 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615184 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615235 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615248 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615373 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 615396 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 615916 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620203 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 BC43.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#423719003 949016860 OMIM 115200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C5679590 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 I42.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 302045 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600884 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601154 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601493 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601494 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 604145 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 604288 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 604765 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 605582 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606685 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 607482 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608569 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609909 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609915 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611407 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611615 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611878 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611879 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611880 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612158 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612877 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613122 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613172 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613252 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613286 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613424 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613426 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613642 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present. 180163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180163 Rare breast malformation 1 Category Group of disorders UMLS C5680494 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 84 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 Fanconi anemia 1 Fanconi pancytopenia Malformation syndrome Disorder OMIM 617883 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617243 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617244 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617247 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0019391 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3A70.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#350719523 1500851497 GARD 6425 E (Exact mapping: the two concepts are equivalent) Validated MeSH D005199 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10055206 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D61.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 227645 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 227646 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 227650 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300514 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600901 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 603467 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609053 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609054 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610832 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613390 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613951 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614082 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614083 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615272 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616435 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0015625 E (Exact mapping: the two concepts are equivalent) Validated OMIM 621258 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. 180154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154 Septate vagina 1 Morphological anomaly Disorder MONDO 0015848 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q52.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 LB42.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1699475508 1699475508 UMLS C0266411 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare vaginal malformation characterized by the presence of a complete or incomplete longitudinal or transverse septum in the vagina due to disrupted fusion or canalization of the solid vaginal plate during embryogenesis. Signs and symptoms depend on the type of septum. 70 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70 Proximal spinal muscular atrophy 1 SMA Disease Disorder GARD 4531 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0019079 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8B61.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#71074342%2fother 648986756 OMIM 253300 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 253400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 253550 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 271150 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 G12.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-10 G12.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4024957 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. 69 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69 Amyloidosis 1 Category Group of disorders ICD-10 E85.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D000686 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0002726 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10002022 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5D00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2078467774 2078467774 MONDO 0019065 E (Exact mapping: the two concepts are equivalent) Validated Definition A vast group of rare systemic diseases characterized by the presence of insoluble fibrillar protein deposits in tissues. Amyloidoses are classified according to biochemical type of amyloid protein involved. 180157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157 Longitudinal vaginal septum 1 Clinical subtype Subtype of disorder ICD-11 LB42.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1699475508 1594393492 ICD-10 Q52.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C1841680 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015849 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities. 180173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180173 Deficient breast volume or number 1 Category Group of disorders UMLS C5680495 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 180176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180176 Familial juvenile hypertrophy of the breast 1 Familial juvenile gigantomastia Virginal breast hypertrophy Morphological anomaly Disorder ICD-10 N62 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 GB22 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#2078176266 OMIM 113670 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4749285 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007237 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. 191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 Cockayne syndrome 1 Disease Disorder MONDO 0016006 E (Exact mapping: the two concepts are equivalent) Validated MeSH D003057 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10009835 E (Exact mapping: the two concepts are equivalent) Validated OMIM 133540 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 214150 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 216400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 278780 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610756 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610758 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616570 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0009207 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2B NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1520135105 1206275070 GARD 6122 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated Definition Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. 166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy 1 CMT/HMSN Charcot-Marie-Tooth hereditary neuropathy Category Group of disorders ICD-11 8C20 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1538134578 1538134578 MeSH D002607 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0007959 E (Exact mapping: the two concepts are equivalent) Validated GARD 6034 E (Exact mapping: the two concepts are equivalent) Validated 140450 OBSOLETE: Hereditary motor and sensory neuropathy Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Primitive hypertrophic subaortic stenosis NON RARE IN EUROPE: Familial isolated hypertrophic subaortic stenosis NON RARE IN EUROPE: Primitive hypertrophic obstructive cardiomyopathy NON RARE IN EUROPE: Familial or idiopathic hypertrophic subaortic stenosis NON RARE IN EUROPE: Familial isolated hypertrophic obstructive cardiomyopathy NON RARE IN EUROPE: Familila or idiopathic hypertrophic obstructive cardiomyopathy NON RARE IN EUROPE: Hypertrophic obstructive cardiomyopathy Disease Disorder This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 180170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180170 Excess breast volume or number 1 Category Group of disorders UMLS C5680496 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 178551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551 Aggressive primary cutaneous T-cell lymphoma 1 Clinical group Group of disorders UMLS C5680497 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 178548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548 Indolent primary cutaneous T-cell lymphoma 1 Clinical group Group of disorders MONDO 0015816 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680498 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 Free sialic acid storage disease 1 Free sialic acid storage disorder FSASD Disease Disorder OMIM 269920 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 604369 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0019366 E (Exact mapping: the two concepts are equivalent) Validated GARD 10870 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1709765980 1817428569 MeSH C538523 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2931872 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E77.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare lysosomal storage disease characterized by a spectrum of clinical manifestations including neurological and developmental disorders with a severity ranging from the milder form, also called Salla disease (SD), to the most severe phenotype, also called infantile free sialic acid storage disease (ISSD). 178557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557 Indolent primary cutaneous B-cell lymphoma 1 Clinical group Group of disorders MONDO 0015819 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680499 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 178554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554 Aggressive primary cutaneous B-cell lymphoma 1 Clinical group Group of disorders UMLS C5680500 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 3135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3135 NON RARE IN EUROPE: Scheuermann's disease 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Spinal osteochondrosis NON RARE IN EUROPE: Scheuermann juvenile kyphosis Malformation syndrome Disorder This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 799 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 Schizencephaly 1 Disease Disorder ICD-11 LA05.61 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1693546163 1693546163 ICD-10 Q04.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 269160 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010011 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0266484 E (Exact mapping: the two concepts are equivalent) Validated MeSH D065707 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10073487 E (Exact mapping: the two concepts are equivalent) Validated GARD 166 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. 178563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563 Primary cutaneous B-cell lymphoma 1 Category Group of disorders UMLS C1274310 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10085518 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015820 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 3151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 512 Historical entity 1 Disease Disorder ICD-11 8A4Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#724748131%2fother ICD-10 G37.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0017837 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4518551 E (Exact mapping: the two concepts are equivalent) Validated Definition Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. 178566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566 Mycosis fungoides and variants 1 Clinical group Group of disorders MONDO 0015821 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2B01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#901411509 2036068731 ICD-10 C84.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C1513782 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of cutaneous T-cell lymphomas characterized by the indolent, slow progression of patches, plaques, and tumors. There are four known variants: classic mycosis fungoides, folliculotropic mycosis fungoides, localized pagetoid reticulosis and granulomatous slack skin. Classic MF is characterized by slow progression from patches on sun-protracted areas to more infiltrated plaques and tumors; folliculotropic MF preferentially involves the head and neck region; localized pagetoid reticulosis shows localized patches or plaques, usually involving one extremity; granulomatous slack skin is extremely rare and characterized by the presence of circumscribed areas of pendulous lax skin. 813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 Silver-Russell syndrome 1 Silver-Russell dwarfism Disease Disorder OMIM 616489 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 735297495 MeSH D056730 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062282 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 180860 E (Exact mapping: the two concepts are equivalent) Validated OMIM 312780 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0008394 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0175693 E (Exact mapping: the two concepts are equivalent) Validated GARD 4870 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare imprinting disorder, characterized by fetal growth restriction with no catch-up associated with feeding anomalies and dysmorphic features. 3169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 Sirenomelia 1 Malformation syndrome Disorder MONDO 0017850 E (Exact mapping: the two concepts are equivalent) Validated GARD 7652 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.12 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#473306797 473306797 ICD-10 Q87.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 600145 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C0037205 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10072457 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated. 816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 Sjögren-Larsson syndrome 1 Fatty acid alcohol oxidoreductase deficiency Disease Disorder ICD-11 5C52.03 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#418359090 418359090 MONDO 0010031 E (Exact mapping: the two concepts are equivalent) Validated GARD 7654 E (Exact mapping: the two concepts are equivalent) Validated MeSH D016111 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0037231 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10048676 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated OMIM 270200 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. 821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 Sotos syndrome 1 Cerebral gigantism Disease Disorder UMLS C0175695 E (Exact mapping: the two concepts are equivalent) Validated GARD 10091 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618677 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0019349 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2C NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2113355045 1887392960 ICD-10 Q87.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH D058495 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10064387 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617169 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 117550 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated 238613 OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation Referred to Definition A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment. 3173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173 Infantile spasms-broad thumbs syndrome 512 Historical entity 1 Tsao-Ellingson syndrome Disease Disorder UMLS C4749287 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G40.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 3002 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0017852 E (Exact mapping: the two concepts are equivalent) Validated Definition Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. 3204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 Stormorken-Sjaastad-Langslet syndrome 1 Thrombocytopathy-asplenia-miosis syndrome Stormorken syndrome Disease Disorder MONDO 0008497 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1861451 E (Exact mapping: the two concepts are equivalent) Validated GARD 5188 E (Exact mapping: the two concepts are equivalent) Validated OMIM 185070 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D69.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 3B62.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#72474955%2fother 888271138 MeSH C566108 E (Exact mapping: the two concepts are equivalent) Validated Definition Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome 1 Encephalofacial angiomatosis Encephalotrigeminal angiomatosis SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome Malformation syndrome Disorder MedDRA 10042265 E (Exact mapping: the two concepts are equivalent) Validated OMIM 185300 E (Exact mapping: the two concepts are equivalent) Validated GARD 7706 E (Exact mapping: the two concepts are equivalent) Validated MeSH D013341 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0038505 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008501 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD23 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1648590821 1173035836 ICD-10 Q85.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated 137911 Autism-facial port-wine stain syndrome Moved to Definition A rare congenital neurocutaneous syndrome defined by a facial capillary malformation or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications. 3320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 Thrombocytopenia-absent radius syndrome 1 TAR syndrome Malformation syndrome Disorder MONDO 0010121 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0175703 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10071719 E (Exact mapping: the two concepts are equivalent) Validated OMIM 274000 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 5116 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 433927766 MeSH C536940 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system. 178996 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178996 Acquired neutropenia 1 Immunologic neutropenia Category Group of disorders UMLS C4543729 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4B00.01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#348671706 348671706 This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 3346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 Tracheal agenesis 1 Tracheal atresia Morphological anomaly Disorder ICD-11 LA73.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#679333287%2fother 566688418 MONDO 0018058 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536975 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1261567 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q32.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 5233 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare congenital malformation characterized by either completely absent (agenesis), or severely underdeveloped (atresia) trachea. In both cases, the tracheal lumen is absent for at least a portion of its length, with no proximal-distal communication between the larynx and lower airways. Functionally and in terms of management, tracheal agenesis and tracheal atresia are equivalent. 179006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179006 Primary immunodeficiency due to a defect in adaptive immunity 1 Category Group of disorders ICD-11 4A01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1169765917 1169765917 UMLS C5680501 E (Exact mapping: the two concepts are equivalent) Validated 2284 OBSOLETE: Primary T cell immunodeficiency Referred to This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858 Congenital toxoplasmosis 1 Toxoplasma embryofetopathy Toxoplasma embryopathy Mother-to-child transmission of toxoplasmosis Disease Disorder ICD-11 KA64.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1194018225 1194018225 ICD-10 P37.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D014125 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0040560 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10010652 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0005715 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by <i>Toxoplasma gondii</i> (Tg). 1245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1245 BIDS syndrome 8192 Inactive 256 Deprecated entity 1 Amish brittle hair syndrome Trichothiodystrophy type D Malformation syndrome Disorder OMIM 234050 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3495483 E (Exact mapping: the two concepts are equivalent) Validated 33364 Trichothiodystrophy Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy 3390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3390 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 8192 Inactive 256 Deprecated entity 1 Disease Disorder OMIM 560000 E (Exact mapping: the two concepts are equivalent) Validated 480 Kearns-Sayre syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Kearns-Sayre syndrome 887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 VACTERL/VATER association 1 VACTERL association VATER association Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association Malformation syndrome Disorder UMLS C4225671 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.11 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1452617987 1452617987 GARD 5443 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0008642 E (Exact mapping: the two concepts are equivalent) Validated OMIM 192350 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare multiple congenital anomalies characterized by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. 291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291 Congenital varicella syndrome 1 Mother-to-child transmission of varicella syndrome Antenatal varicella virus infection Disease Disorder UMLS C4275251 E (Exact mapping: the two concepts are equivalent) Validated GARD 45 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0017372 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 P35.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 KA62.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2071159826 662161761 Definition A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection. 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis 1 CTX Sterol 27-hydroxylase deficiency Disease Disorder ICD-11 5C52.11 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1295299670 1556875179 GARD 5622 E (Exact mapping: the two concepts are equivalent) Validated MeSH D019294 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0238052 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0008948 E (Exact mapping: the two concepts are equivalent) Validated OMIM 213700 E (Exact mapping: the two concepts are equivalent) Validated Definition Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. 3447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 Weaver syndrome 1 EZH2-related overgrowth syndrome Syndrome d'hypercroissance associé à EZH2 Malformation syndrome Disorder MONDO 0010193 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 LD2C NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2113355045 2042913723 OMIM 277590 E (Exact mapping: the two concepts are equivalent) Validated GARD 7878 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536687 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265210 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10083271 E (Exact mapping: the two concepts are equivalent) Validated Definition Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. 1422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 Chondrodysplasia-difference of sex development syndrome 1 Nivelon-Nivelon-Mabille syndrome Chondrodysplasia-disorder of sex development syndrome Chondrodysplasia-pseudohermaphroditism syndrome Malformation syndrome Disorder MONDO 0010814 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1838654 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 600092 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536123 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#1660235889%2fother Definition A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. 178478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178478 Infant botulism 1 Infant intestinal botulism Infant intestinal toxemia botulism Infant intestinal toxin-mediated botulism Infantile botulism Clinical subtype Subtype of disorder UMLS C0238027 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A05.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 1A11.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1393712712 2113104711 MONDO 0015804 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. 178481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178481 Intestinal botulism 1 Intestinal colonization botulism Intestinal toxemia botulism Intestinal toxin-mediated botulism Clinical subtype Subtype of disorder UMLS C1443901 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A05.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 1A11.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1393712712 1393712712 MONDO 0015805 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism). 178469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 Autosomal dominant non-syndromic intellectual disability 1 Etiological subtype Subtype of disorder OMIM 617796 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618106 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 F71 BTNT (ORPHAcode is broader than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 156200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612580 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612581 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620224 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614113 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614254 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620502 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614256 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614257 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614563 BTNT (ORPHAcode is broader than the targeted code used to represent it) Not yet validated OMIM 616393 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616579 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619188 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618330 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619575 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 12107 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617854 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619927 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618709 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 F72 BTNT (ORPHAcode is broader than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-10 F73 BTNT (ORPHAcode is broader than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 617601 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616977 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618095 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617799 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617798 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612082 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LD90.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#775270311%2fother null UMLS C5680502 E (Exact mapping: the two concepts are equivalent) Validated OMIM 620114 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 F70 BTNT (ORPHAcode is broader than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015802 E (Exact mapping: the two concepts are equivalent) Validated This disease is described under Rare non-syndromic intellectual disability 178475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178475 Wound botulism 1 Cutaneous infectious botulism Cutaneous toxin-mediated botulism Inoculation botulism Skin infectious botulism Skin toxin-mediated botulism Etiological subtype Subtype of disorder UMLS C1306794 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A05.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 1A11.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1393712712 1674998448 MONDO 0015803 E (Exact mapping: the two concepts are equivalent) Validated Definition Wound botulism is a rare infectious form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by <i>Clostridium botulinum</i>. 178461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461 X-linked myopathy with postural muscle atrophy 1 XMPMA Disease Disorder MONDO 0010401 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300696 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 8C70.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1464662404%2fother 420677690 UMLS C2678055 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. 178464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 Hereditary myopathy with early respiratory failure 1 MFM-titinopathy Hereditary inclusion body myopathy with early respiratory failure Myofibrillar myopathy with early respiratory failure Myofibrillar myopathy-titinopathy Edström Myopathy HIBM-ERF HMERF Disease Disorder ICD-10 G71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 603689 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C70.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1464662404%2fother 116175357 GARD 12591 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011362 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1863599 E (Exact mapping: the two concepts are equivalent) Validated MeSH C566343 E (Exact mapping: the two concepts are equivalent) Validated 34521 Distal myopathy with early respiratory muscle involvement Moved to Definition A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles. 178396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 1 Disease Disorder MONDO 0015801 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C5A NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#824872160 59972355 UMLS C5190706 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613490 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated ICD-10 D68.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation. 178400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 Distal myopathy with anterior tibial onset 1 Distal anterior compartment myopathy Disease Disorder ICD-11 8C75 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#596283352 651559966 ICD-10 G71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 606768 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1847532 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011721 E (Exact mapping: the two concepts are equivalent) Validated MeSH C564664 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent. 178382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382 Congenital vertical talus 1 Congenital convex foot Congenital convex pes valgus Congenital rocker-bottom foot Morphological anomaly Disorder ICD-11 LB98.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1525079646 1525079646 GARD 5488 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008652 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q66.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated UMLS C0240912 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10066242 E (Exact mapping: the two concepts are equivalent) Validated OMIM 192950 E (Exact mapping: the two concepts are equivalent) Validated Definition Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus. 178389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 Osteopetrosis-hypogammaglobulinemia syndrome 1 Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia Autosomal recessive osteopetrosis type 7 Disease Disorder GARD 10106 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 612301 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4751205 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#85074116%2fother 650867744 MONDO 0012859 E (Exact mapping: the two concepts are equivalent) Validated Definition Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. 62 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 1 Alpha-sarcoglycanopathy LGMD2D Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Autosomal recessive limb-girdle muscular dystrophy type 2D Alpha-sarcoglycan-related LGMD R3 LGMD type 2D LGMD due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy type 2D Disease Disorder ICD-10 G71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated UMLS C2936332 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C70.41 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#319162980 1066309170 OMIM 608099 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011968 E (Exact mapping: the two concepts are equivalent) Validated GARD 438 E (Exact mapping: the two concepts are equivalent) Validated Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. 178364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 Syndromic microphthalmia type 5 1 MCOPS5 Syndromic microphthalmia/anophthalmia due to OTX2 mutation Malformation syndrome Disorder GARD 3692 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD21.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#609020523 1937797697 ICD-10 Q11.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 610125 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1864690 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012413 E (Exact mapping: the two concepts are equivalent) Validated MeSH C566441 E (Exact mapping: the two concepts are equivalent) Validated Definition Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. 715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 Glycogen storage disease due to muscle phosphorylase kinase deficiency 1 GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe Glycogen storage disease type 9D Glycogen storage disease type 9E Glycogen storage disease type IXd Glycogen storage disease type IXe Glycogenosis due to muscle phosphorylase kinase deficiency Glycogenosis type 9D Glycogenosis type 9E Glycogenosis type IXd Glycogenosis type IXe Disease Disorder OMIM 300559 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 3858 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010362 E (Exact mapping: the two concepts are equivalent) Validated MeSH C564485 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 273845529 UMLS C1845151 E (Exact mapping: the two concepts are equivalent) Validated Definition Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. 178377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 Osteosclerosis-developmental delay-craniosynostosis syndrome 1 Malformation syndrome Disorder ICD-10 Q75.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015800 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 1242678204 UMLS C4302818 E (Exact mapping: the two concepts are equivalent) Validated Definition This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. 348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 Fructose-1,6-bisphosphatase deficiency 1 FBPase deficiency Fructose-1,6-diphosphatase deficiency Disease Disorder UMLS C0016756 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E74.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 229700 E (Exact mapping: the two concepts are equivalent) Validated GARD 2400 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.5Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#596254627%2fother 2128680017 MONDO 0009251 E (Exact mapping: the two concepts are equivalent) Validated MeSH D015319 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10081516 E (Exact mapping: the two concepts are equivalent) Validated Definition Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants. 178345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345 Aromatase excess syndrome 1 AEXS Familial hyperestrogenism Hereditary prepubertal gynecomastia Disease Disorder ICD-11 5A92 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1495024153 191989744 ICD-10 E30.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 139300 E (Exact mapping: the two concepts are equivalent) Validated GARD 12494 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1970109 E (Exact mapping: the two concepts are equivalent) Validated MeSH C000591739 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007690 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. 178355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355 Smith-McCort dysplasia 1 Disease Disorder MONDO 0015799 E (Exact mapping: the two concepts are equivalent) Validated GARD 10620 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 1800275830 UMLS C1846431 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 607326 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615222 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C564589 E (Exact mapping: the two concepts are equivalent) Validated Definition Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. 178338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338 UV-sensitive syndrome 1 Disease Disorder MONDO 0015797 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1833561 E (Exact mapping: the two concepts are equivalent) Validated OMIM 600630 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614621 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614640 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 10947 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 L56.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C563466 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive. 3137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 Alpha-N-acetylgalactosaminidase deficiency 1 NAGA deficiency Schindler disease Disease Disorder ICD-10 E77.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 609241 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609242 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C5848084 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C56.21 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1805681916 1647881428 MONDO 0017779 E (Exact mapping: the two concepts are equivalent) Validated Definition A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. 3435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3435 NON RARE IN EUROPE: Vitiligo 8192 Inactive 1 32 Non-rare disease in Europe Disease Disorder ICD-10 L80 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 178342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178342 Inflammatory myofibroblastic tumor 1 Disease Disorder ICD-11 2F30.Y BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2120366482%2fother 1771243201 UMLS C0334121 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10067917 E (Exact mapping: the two concepts are equivalent) Validated GARD 7146 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2E92.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#479576735 477502352 ICD-10 D48.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015798 E (Exact mapping: the two concepts are equivalent) Validated Definition Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction. 178544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544 Primary cutaneous diffuse large B-cell lymphoma, leg type 1 PCDLBCL,LT Disease Disorder ICD-10 C83.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 2A81.A E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1418101362 1418101362 UMLS C1709656 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0006383 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10. 178540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540 Primary cutaneous follicle center lymphoma 1 PCFCL Disease Disorder ICD-11 2A80.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#77501812 77501812 UMLS C1333171 E (Exact mapping: the two concepts are equivalent) Validated GARD 13701 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015814 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C82.6 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated Definition A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2. 117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117 Behçet disease 1 Disease Disorder ICD-11 4A62 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1668927157 1668927157 MONDO 0007191 E (Exact mapping: the two concepts are equivalent) Validated GARD 848 E (Exact mapping: the two concepts are equivalent) Validated MeSH D001528 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0004943 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10004213 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M35.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 109650 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. 732 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732 Polymyositis 1 Disease Disorder GARD 7425 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A41.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1157134196 1157134196 MeSH D017285 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0085655 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10036102 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M33.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0019127 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder. 178536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536 Primary cutaneous marginal zone B-cell lymphoma 1 PCMZL Disease Disorder MONDO 0015813 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1275321 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C83.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 2A85.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#745285555 745285555 Definition A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains. 178533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533 Primary cutaneous gamma/delta-positive T-cell lymphoma 1 Disease Disorder ICD-10 C84.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015812 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1707547 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2B0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1998421548%2fother 1158873778 Definition Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported. 221 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221 Dermatomyositis 1 Adult dermatomyositis Disease Disorder MONDO 0016367 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A41.00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#544509908 544509908 ICD-10 M33.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D003882 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0011633 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10012503 E (Exact mapping: the two concepts are equivalent) Validated GARD 6263 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M33.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-&#947;, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis. 598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598 Multiminicore myopathy 1 MmD Multiminicore disease Disease Disorder OMIM 117000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 255320 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 602771 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0270962 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MONDO 0018948 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#854289056%2fother 880281117 Definition A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. 178528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma 1 Berti lymphoma Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma Disease Disorder MONDO 0015811 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C84.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4518232 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2B0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1998421548%2fother 1228062926 Definition Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared. 204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204 Sporadic Creutzfeldt-Jakob disease 1 Sporadic CJD Disease Disorder OMIM 123400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MeSH C565143 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1852467 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10011384 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A81.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 8E00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1553463690 1553463690 GARD 6956 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016079 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis. 178522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma 1 Disease Disorder ICD-10 C84.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015810 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680503 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils. 178517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517 Localized pagetoid reticulosis 1 Pagetoid reticulosis, Woringer-Kolopp type Disease Disorder MONDO 0015809 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C84.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D056267 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1276140 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2B01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#901411509 null Definition A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity. 178512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512 Folliculotropic mycosis fungoides 1 Mycosis fungoides-associated follicular mucinosis Disease Disorder MONDO 0015808 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2B01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#901411509 1335995469 UMLS C1627767 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C84.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A variant of mycosis fungoides (MF) characterized by the presence of folliculotropic infiltrates, often with sparing of the epidermis and preferential involvement of the head and neck region. Most cases show mucinous degeneration of the hair follicles (follicular mucinosis) and are traditionally designated as MF-associated follicular mucinosis. 178509 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509 Perry syndrome 1 Parkinsonism with alveolar hypoventilation and mental depression Disease Disorder MedDRA 10079207 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G23.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 168605 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A00.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#598493320%2fother 1441227658 GARD 10453 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1868594 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008201 E (Exact mapping: the two concepts are equivalent) Validated MeSH C566822 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. 178506 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506 Interstitial lung disease-brain calcification syndrome 1 Interstitial lung disease-brain calcification syndrome, Rajab type Developmental delay-brain calcification-interstitial lung disease syndrome Brain calcification, Rajab type Disease Disorder OMIM 619013 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613658 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 LD20.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1361836748 356225293 ICD-10 G93.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C3150910 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. 178503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178503 Dursun syndrome 8192 Inactive 256 Deprecated entity 1 Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome Malformation syndrome Disorder UMLS C2751630 E (Exact mapping: the two concepts are equivalent) Validated 331176 Severe congenital neutropenia due to G6PC3 deficiency Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 611 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611 Inclusion body myositis 1 IBM Sporadic inclusion body myositis sIBM Disease Disorder GARD 3896 E (Exact mapping: the two concepts are equivalent) Validated OMIM 147421 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0238190 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10066407 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M60.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0007827 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A41.20 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#797555186 1091975965 MeSH D018979 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness, starting in either the quadriceps or finger flexors and slowly progressing to include other groups of limb muscles. Distinctive histopathological features include inflammatory and degenerative features. 178493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178493 NON RARE IN EUROPE: Myopic macular degeneration 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Myopic maculopathy Disease Disorder MONDO 0015807 E (Exact mapping: the two concepts are equivalent) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 178487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178487 Adult intestinal botulism 1 Adult intestinal colonization botulism Adult intestinal toxemia botulism Adult intestinal toxin-mediated botulism Infant-like botulism Clinical subtype Subtype of disorder ICD-10 A05.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 1A11.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1393712712 1601222948 UMLS C4289991 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015806 E (Exact mapping: the two concepts are equivalent) Validated Definition A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. 177926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926 Bleeding disorder in hemophilia A carriers 1 Clinical subtype Subtype of disorder UMLS C5680504 E (Exact mapping: the two concepts are equivalent) Validated OMIM 306700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated ICD-11 3B10.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#337607970 1533214918 ICD-10 D66 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare bleeding disorder in association with carrier mutations in the <i>F8</i> gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII &#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers. 581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 Mucopolysaccharidosis type 3 1 MPS3 MPSIII Mucopolysaccharidosis type III Sanfilippo disease Sanfilippo syndrome Disease Disorder MeSH D009084 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0026706 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10056890 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E76.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 3807 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018937 E (Exact mapping: the two concepts are equivalent) Validated OMIM 252900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 252920 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 252930 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 252940 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 5C56.3Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1596128696%2fother 1477250013 Definition A group of rare lysosomal storage diseases characterized by progressive neurocognitive decline, loss of functional abilities and premature death. There are four etiological subtypes of mucopolysaccharidosis type&nbsp;3 (MPS&nbsp;III, Sanfilippo syndrome) called Sanfilippo syndrome type A, B, C, and D. Each subtype is caused by deficiency of a particular enzyme involved in the degradation of heparan sulfate leading to substrate accumulation and cellular dysfunction. 177929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929 Bleeding disorder in hemophilia B carriers 1 Clinical subtype Subtype of disorder ICD-11 3B11.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1901375668 1463993018 ICD-10 D67 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C5680505 E (Exact mapping: the two concepts are equivalent) Validated OMIM 306900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated Definition A rare bleeding disorder in association with carrier mutations in the <i>F9</i> gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX &#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers. 178025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations 1 Category Group of disorders UMLS C5680506 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685 Hereditary spastic paraplegia 1 Familial spastic paraplegia HSP Hereditary spastic paraparesis SPG Strümpell-Lorrain disease Clinical group Group of disorders UMLS C0037773 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10019903 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D015419 E (Exact mapping: the two concepts are equivalent) Validated GARD 6637 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0019064 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8B44.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#810807375 810807375 Definition A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features. 666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666 Osteogenesis imperfecta 1 Brittle bone disease Glass bone disease Lobstein disease OI Disease Disorder OMIM 619795 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 1017 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.K0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1219932551 1219932551 MeSH D010013 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10031243 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 301014 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0019019 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610682 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610915 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610967 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610968 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613848 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613849 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613982 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614856 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615066 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615220 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616229 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616507 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0029434 E (Exact mapping: the two concepts are equivalent) Validated OMIM 619131 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 166200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 166210 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 166220 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 166230 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 259420 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 259440 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous. 178029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178029 Arginine vasopressin deficiency 1 CDI Neurogenic diabetes insipidus Disease Disorder GARD 6015 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E23.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 125700 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 304900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D020790 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0687720 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10068587 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015790 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A61.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1009553897 1009553897 95501 OBSOLETE: Congenital central diabetes insipidus Referred to Definition Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI). 177901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 1 Etiological subtype Subtype of disorder ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C5680507 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD90.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#393773440 null OMIM 615547 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MONDO 0015783 E (Exact mapping: the two concepts are equivalent) Validated This disease is described under Prader-Willi syndrome 423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423 Malignant hyperthermia of anesthesia 1 Hyperthermia of anesthesia Disease Disorder ICD-11 8C78 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1397199211 1397199211 MedDRA 10020844 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 T88.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0018493 E (Exact mapping: the two concepts are equivalent) Validated GARD 6964 E (Exact mapping: the two concepts are equivalent) Validated OMIM 145600 E (Exact mapping: the two concepts are equivalent) Validated OMIM 154275 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 154276 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600467 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601887 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601888 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D008305 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0024591 E (Exact mapping: the two concepts are equivalent) Validated Definition Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat. 177904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 1 Etiological subtype Subtype of disorder ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LD90.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#393773440 null UMLS C5680508 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015784 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615547 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated This disease is described under Prader-Willi syndrome 418 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418 Congenital adrenal hyperplasia 1 CAH Clinical group Group of disorders MeSH D000312 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10010323 E (Exact mapping: the two concepts are equivalent) Validated GARD 1467 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E25.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 5A71.01 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#172733763 172733763 OMIM 201710 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 201810 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 201910 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 202010 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 202110 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613571 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0001627 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018479 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity. 177907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 Prader-Willi syndrome due to translocation 1 Etiological subtype Subtype of disorder ICD-11 LD90.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#393773440 null ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 176270 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C5680509 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015785 E (Exact mapping: the two concepts are equivalent) Validated This disease is described under Prader-Willi syndrome 177910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 Prader-Willi syndrome due to imprinting mutation 1 Etiological subtype Subtype of disorder ICD-11 LD90.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#393773440 null ICD-10 Q87.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 176270 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated UMLS C5680510 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015786 E (Exact mapping: the two concepts are equivalent) Validated This disease is described under Prader-Willi syndrome 216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 Neuronal ceroid lipofuscinosis 1 NCL NCL disease CLN disease Clinical group Group of disorders ICD-11 5C56.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1568332253 1568332253 MedDRA 10074607 E (Exact mapping: the two concepts are equivalent) Validated MeSH D009472 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0016295 E (Exact mapping: the two concepts are equivalent) Validated GARD 10739 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0027877 E (Exact mapping: the two concepts are equivalent) Validated 79262 OBSOLETE: Adult neuronal ceroid lipofuscinosis Referred to 79263 OBSOLETE: Infantile neuronal ceroid lipofuscinosis Referred to 79264 OBSOLETE: Juvenile neuronal ceroid lipofuscinosis Referred to 168486 OBSOLETE: Congenital neuronal ceroid lipofuscinosis Referred to 168491 OBSOLETE: Late infantile neuronal ceroid lipofuscinosis Referred to 228357 OBSOLETE: CLN9 disease Referred to Definition Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. 364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 Glycogen storage disease due to glucose-6-phosphatase deficiency 1 G6P deficiency GSD due to G6P deficiency GSD type 1 Glycogen storage disease due to G6P deficiency Glycogen storage disease type 1 Glycogenosis type 1 Hepatorenal glycogenosis Von Gierke disease GSD type I Glycogen storage disease type I Glycogenosis type I Disease Disorder ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 523888904 UMLS C0017920 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10018464 E (Exact mapping: the two concepts are equivalent) Validated OMIM 232200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 232220 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 232240 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH D005953 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0002413 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare inherited metabolic disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting, growth delay and hepatomegaly resulting from accumulation of glycogen and fat in the liver. 177101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177101 Rare adult hypothyroidism 1 Category Group of disorders UMLS C5680511 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355 Gaucher disease 1 Acid beta-glucosidase deficiency Glucocerebrosidase deficiency Disease Disorder ICD-11 5C56.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1875237176%2fother 1923566939 MONDO 0018150 E (Exact mapping: the two concepts are equivalent) Validated OMIM 230800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 230900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 231000 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 231005 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608013 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610539 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D005776 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0017205 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10018048 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 8233 E (Exact mapping: the two concepts are equivalent) Validated Definition Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). 388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 Hirschsprung disease 1 Aganglionic megacolon Congenital intestinal aganglionosis HSCR Colonic aganglionosis Disease Disorder ICD-11 LB16.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1772690306 1772690306 MeSH D006627 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0019569 E (Exact mapping: the two concepts are equivalent) Validated OMIM 142623 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600155 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600156 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606874 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606875 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608462 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0018309 E (Exact mapping: the two concepts are equivalent) Validated OMIM 611644 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613711 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613712 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10010539 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q43.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 6660 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613870 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. 177107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107 Syndromic hypothyroidism 1 Category Group of disorders UMLS C5680512 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448 Hemophilia 1 Clinical group Group of disorders UMLS C0684275 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10061992 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0018660 E (Exact mapping: the two concepts are equivalent) Validated GARD 10418 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. 304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304 Epidermolysis bullosa simplex 1 EBS Clinical group Group of disorders MONDO 0017610 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EC30 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1860717527 1860717527 MeSH D016110 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q81.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0079298 E (Exact mapping: the two concepts are equivalent) Validated GARD 10752 E (Exact mapping: the two concepts are equivalent) Validated 89839 OBSOLETE: Epidermolysis bullosa simplex superficialis Referred to 158661 OBSOLETE: Suprabasal epidermolysis bullosa simplex Referred to 158665 OBSOLETE: Basal epidermolysis bullosa simplex Referred to Definition A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. 174590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590 Congenital hypogonadotropic hypogonadism 1 Category Group of disorders MedDRA 10083932 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015770 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3899503 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 GM1 gangliosidosis 1 Beta-galactosidase-1 deficiency GLB1 deficiency Landing disease Disease Disorder MONDO 0018149 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0085131 E (Exact mapping: the two concepts are equivalent) Validated MeSH D016537 E (Exact mapping: the two concepts are equivalent) Validated OMIM 230500 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 230600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 230650 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 5C56.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#797306953 401105928 ICD-10 E75.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 10891 E (Exact mapping: the two concepts are equivalent) Validated Definition GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. 178320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178320 Acute lung injury 1 Particular clinical situation in a disease or syndrome Disorder MeSH D055371 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 S27.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0242488 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10069351 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 NB32.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#359051131 MONDO 0015796 E (Exact mapping: the two concepts are equivalent) Validated 178315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178315 Undifferentiated embryonal sarcoma of the liver 1 Embryonal sarcoma of the liver UES Undifferentiated sarcoma of the liver Disease Disorder MONDO 0015795 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 2B55.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#800945476%2fother 2144940292 ICD-10 C22.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C2205345 E (Exact mapping: the two concepts are equivalent) Validated Definition Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache. 178333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333 Åland Islands eye disease 1 AIED Forsius-Eriksson syndrome Forsius-Eriksson type ocular albinism Disease Disorder OMIM 300600 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010371 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 H35.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C0268505 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562664 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 9B7Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#77208243%2fother 2025088146 GARD 10574 E (Exact mapping: the two concepts are equivalent) Validated Definition An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. 362 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=362 NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: Favism NON RARE IN EUROPE: G6PD deficiency Disease Disorder ICD-10 D55.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 Purine nucleoside phosphorylase deficiency 1 PNP deficiency PNPase deficiency Disease Disorder UMLS C0268125 E (Exact mapping: the two concepts are equivalent) Validated OMIM 613179 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D81.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 4606 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562587 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10086665 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0013171 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A01.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1616506198%2fother 1771940876 Definition A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations. 178330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178330 OBSOLETE: Heinz body anemia 8192 Inactive 16 Obsolete entity Disease Disorder 98363 Rare hemolytic anemia Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Rare hemolytic anemia 270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 Oculopharyngeal muscular dystrophy 1 OPMD Disease Disorder MedDRA 10052181 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 9C82.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#85581889 1354386293 OMIM 164300 E (Exact mapping: the two concepts are equivalent) Validated GARD 7245 E (Exact mapping: the two concepts are equivalent) Validated MeSH D039141 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0270952 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008116 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness. 178303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303 8q22.1 microdeletion syndrome 1 Monosomy 8q22.1 Nablus mask-like facial syndrome Malformation syndrome Disorder OMIM 608156 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 4722 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1842464 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011977 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD44.80 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#653068448 115857702 MeSH C536110 E (Exact mapping: the two concepts are equivalent) Validated Definition The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. 244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244 Primary ciliary dyskinesia 1 PCD Disease Disorder ICD-11 LA75.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1749762534%2fother 1713839459 OMIM 620032 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MedDRA 10069713 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q34.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 618801 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618695 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619436 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618063 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618781 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617092 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617091 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613808 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614017 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614679 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614874 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614935 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615067 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620197 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615294 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615444 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615451 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615481 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615482 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615500 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615504 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615505 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615872 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616037 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616481 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616726 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 215518 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 215520 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 242670 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 242680 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 244400 E (Exact mapping: the two concepts are equivalent) Validated OMIM 606763 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608644 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608646 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608647 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610852 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611884 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612274 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612444 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612518 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612649 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612650 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613193 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613807 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300991 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618300 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617577 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0016575 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618449 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618254 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 4484 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4551720 E (Exact mapping: the two concepts are equivalent) Validated OMIM 620570 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618699 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620356 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620438 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620642 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated 91365 OBSOLETE: Secondary ciliary dyskinesia Referred to 98861 Primary ciliary dyskinesia, Kartagener type Moved to Definition A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). 178148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita 1 Clinical subtype Subtype of disorder ICD-11 8C72.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#854289056%2fother 2136141208 UMLS C1843691 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C537474 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015794 E (Exact mapping: the two concepts are equivalent) Validated This disease is described under Multiminicore myopathy 178311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178311 Isolated sternocostoclavicular hyperostosis 1 Isolated SCCH Disease Disorder ICD-10 M85.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0044355 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4707796 E (Exact mapping: the two concepts are equivalent) Validated Definition Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. 178307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307 Reticulate acropigmentation of Kitamura 1 RAK Disease Disorder MONDO 0014234 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0406811 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 L81.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 615537 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti. 589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589 Myasthenia gravis 1 Acquired myasthenia Autoimmune myasthenia gravis Disease Disorder MedDRA 10028417 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G70.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0009688 E (Exact mapping: the two concepts are equivalent) Validated OMIM 607085 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D009157 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0026896 E (Exact mapping: the two concepts are equivalent) Validated OMIM 159400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 254200 E (Exact mapping: the two concepts are equivalent) Validated GARD 7122 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C60 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1270100227 1270100227 Definition Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. 805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 Tuberous sclerosis complex 1 Bourneville syndrome Tuberous sclerosis Disease Disorder GARD 7830 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q85.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 191100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613254 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D014402 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0041341 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10080584 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2D.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1903085809 1903085809 MONDO 0001734 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders. 886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886 Usher syndrome 1 Retinitis pigmentosa-deafness syndrome USH Retinitis pigmentosa-hearing loss syndrome Disease Disorder OMIM 612632 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614504 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614869 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614990 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0271097 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10063396 E (Exact mapping: the two concepts are equivalent) Validated MeSH D052245 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 H35.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 276900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 276901 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 276902 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 276904 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 500004 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601067 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 602083 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 602097 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 605472 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606943 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611383 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 7843 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0019501 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2H.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1452641873 1452641873 Definition A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction. 178145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 Moderate multiminicore disease with hand involvement 1 Clinical subtype Subtype of disorder ICD-11 8C72.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#854289056%2fother 1297824145 UMLS C1861753 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 117000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MeSH C566147 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015793 E (Exact mapping: the two concepts are equivalent) Validated This disease is described under Multiminicore myopathy 3440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 Waardenburg syndrome 1 Disease Disorder MONDO 0018094 E (Exact mapping: the two concepts are equivalent) Validated OMIM 148820 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 193500 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 193510 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600193 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 606662 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611584 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 E70.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated MedDRA 10069203 E (Exact mapping: the two concepts are equivalent) Validated MeSH D014849 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3266898 E (Exact mapping: the two concepts are equivalent) Validated GARD 5525 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 EC23.2Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#143807416%2fother 304883627 Definition A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term ''Waardenburg syndrome'' (WS). 178040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178040 Rare peripheral precocious puberty 1 Category Group of disorders ICD-11 5A92 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1495024153 1495024153 UMLS C5680513 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 Pelizaeus-Merzbacher disease 1 Diffuse familial brain sclerosis PMD Pelizaeus-Merzbacher brain sclerosis Sudanophilic leukodystrophy, Paelizeus-Merzbacher type Disease Disorder MONDO 0010714 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020371 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10067610 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E75.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated ICD-11 8A44.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1313582105 1313582105 GARD 4265 E (Exact mapping: the two concepts are equivalent) Validated OMIM 312080 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0205711 E (Exact mapping: the two concepts are equivalent) Validated OMIM 213900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated 85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome Moved to Definition Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. 738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 Porphyria 1 Clinical group Group of disorders UMLS C5848305 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10036181 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E80.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 E80.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 5C58.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#98434199 98434199 GARD 10353 E (Exact mapping: the two concepts are equivalent) Validated MeSH D011164 E (Exact mapping: the two concepts are equivalent) Validated Definition A group of rare hereditary metabolic diseases characterized by intermittent neurovisceral manifestations and/or skin lesions. 768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768 Congenital long QT syndrome 1 Congenital LQTS Clinical group Group of disorders MONDO 0019171 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 BC65.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1208831985 1208831985 UMLS C1141890 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10057926 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618447 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611820 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612347 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612955 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613485 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613688 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613693 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613695 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616247 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616249 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 192500 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 220400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600919 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601005 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 603830 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611818 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611819 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. 178045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178045 Transient congenital hypothyroidism 1 Clinical group Group of disorders MONDO 0015792 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A00.03 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#592246939 592246939 This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 Retinitis pigmentosa 1 Disease Disorder OMIM 619845 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618826 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 H35.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 618697 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617123 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617023 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620228 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 5694 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618613 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613809 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613810 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613827 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613861 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613862 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613983 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614180 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614181 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614494 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 615233 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615434 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615565 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615725 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615780 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617433 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 615922 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616188 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) Validated OMIM 616394 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616469 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616544 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616562 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0019200 E (Exact mapping: the two concepts are equivalent) Validated OMIM 610599 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611131 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612095 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612165 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612572 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612712 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 612943 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613194 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613341 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 613428 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613464 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613575 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613581 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613582 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613617 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613660 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 613731 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613750 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618955 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) Validated OMIM 619007 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) Validated OMIM 613756 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613758 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613767 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613769 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613794 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613801 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300424 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300605 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 312600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 312612 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 400004 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600059 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600105 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600132 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600138 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600852 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601414 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 601718 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 602594 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 602772 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 604232 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 604393 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 606068 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 607921 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608133 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608380 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609913 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 609923 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610282 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 610359 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D012174 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0035334 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10038914 E (Exact mapping: the two concepts are equivalent) Validated OMIM 180100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 180104 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 180105 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 180210 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 268000 E (Exact mapping: the two concepts are equivalent) Validated OMIM 268025 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 268060 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300029 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 300155 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617304 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617460 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618173 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617781 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618220 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618195 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617871 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618345 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620102 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 9B70 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1060480722 1034171240 Definition Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. 172985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172985 OBSOLETE: Congenital myopathy with vacuoles 8192 Inactive 16 Obsolete entity Category Group of disorders 97245 Congenital myopathy Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Congenital myopathy 375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375 Anti-glomerular basement membrane disease 1 Anti-GBM syndrome Disease Disorder MeSH D019867 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0403529 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10081981 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M31.0+ NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 233450 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 N08.5* NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated ICD-11 MF85 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#591736785 591736785 MONDO 0009303 E (Exact mapping: the two concepts are equivalent) Validated GARD 2551 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, fulminant small vessel vasculitis that affects the capillary beds of the kidneys and lungs and characterized by the presence of anti-glomerular basement membrane (GBM) and, in its full-blown form, anti-alveolar basement membrane (ABM) antibodies. Consequently, it may manifest as a rapidly progressive, isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage. 2054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2054 OBSOLETE: Osteochondritis of tarsal/metatarsal bone 8192 Inactive 16 Obsolete entity Disease Disorder 399319 Osteochondrosis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Osteochondrosis 172979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172979 OBSOLETE: Congenital myopathy with central nuclei 8192 Inactive 16 Obsolete entity Category Group of disorders 97245 Congenital myopathy Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Congenital myopathy 183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 Eosinophilic granulomatosis with polyangiitis 1 Churg-Strauss syndrome EGPA Granulomatous allergic angiitis Disease Disorder GARD 6111 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0008728 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015943 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10048594 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M30.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 4A44.A2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#835880885 835880885 MeSH D015267 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare systemic vasculitis of small vessels characterized by asthma, blood and tissue eosinophilia and vasculitis manifestations. 172982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172982 OBSOLETE: Congenital myopathy with fiber size variation 8192 Inactive 16 Obsolete entity Category Group of disorders 97245 Congenital myopathy Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Congenital myopathy 1164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1164 Allergic bronchopulmonary aspergillosis 1 ABPA Allergic aspergillosis Hinson-Pepys disease Disease Disorder GARD 602 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 CA82.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1826470791 1591607082 MONDO 0015243 E (Exact mapping: the two concepts are equivalent) Validated MeSH D001229 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0004031 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10006474 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B44.1+ NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-10 J99.8* NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 103920 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare immunologic pulmonary disorder caused by hypersensitivity to <i>Aspergillus fumigatus</i>, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates. 2406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406 Locked-in syndrome 1 Pseudocoma LIS Clinical syndrome Disorder UMLS C0023944 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000080422 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8E45 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#17562655 17562655 MONDO 0016567 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10024792 E (Exact mapping: the two concepts are equivalent) Validated GARD 6919 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G83.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare neurologic disease characterized by severe paralysis of the limbs and the oral structures causing the person to be completely dependent on help in all activities of daily living and communication, while having preserved cognition. Most commonly, the term locked-in syndrome (LIS) is used when the condition is caused by acquired brain injury (as in this text), but sometimes also when referring to the advanced stage of certain neurodegenerative disorders. 509 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=509 Leptospirosis 1 Disease Disorder ICD-10 A27.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0005825 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A27.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D007922 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0023364 E (Exact mapping: the two concepts are equivalent) Validated GARD 7881 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10024238 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A27.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 1B91 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#751399056 751399056 Definition An anthropozoonosis, rare in Europe, clinically characterized by an initial presentation of flu-like symptoms rapidly progressing into life-threatening multisystem failure (notably hepatonephritis) caused by spiral-shaped bacteria belonging to the genus <i>Leptospira</i>. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America. 761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761 Immunoglobulin A vasculitis 1 Anaphylactoid purpura Henoch-Schönlein purpura IgA vasculitis Purpura rheumatica Rheumatoid purpura Disease Disorder UMLS C0034152 E (Exact mapping: the two concepts are equivalent) Validated MeSH D011695 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D69.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MedDRA 10082960 E (Exact mapping: the two concepts are equivalent) Validated GARD 8204 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A44.92 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1629105375 1629105375 MONDO 0019167 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, small-vessel vasculitis characterized by skin purpura, arthritis, abdominal and/or renal involvement, IgA tissue deposits (arterioles, capillaries, and venules) and circulating IgA immune complexes. 2131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131 Alternating hemiplegia of childhood 1 AHC Disease Disorder ICD-11 MB53.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#774373615 301329822 MeSH C536589 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0338488 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G98 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 104290 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614820 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 11 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016241 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10077948 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare neurological syndrome characterized by episodes of hemiplegia (alternating between the two sides of the body) or tetraplegia, and other accesses such as abnormal ocular movements, dystonia, and dysautonomia. Patients have permanent neurological impairment, variable degrees of intellectual disability, movement disorders, and psychiatric problems. Half of them present with epilepsy. 171901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901 Primary cutaneous T-cell lymphoma 1 Category Group of disorders MONDO 0015758 E (Exact mapping: the two concepts are equivalent) Validated GARD 6226 E (Exact mapping: the two concepts are equivalent) Validated MeSH D016410 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0079773 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10011677 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 1 GSD due to phosphoglycerate kinase 1 deficiency Glycogenosis due to phosphoglycerate kinase 1 deficiency Disease Disorder GARD 7389 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010392 E (Exact mapping: the two concepts are equivalent) Validated OMIM 300653 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 1396572570 ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C5568976 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. 171915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171915 B-cell non-Hodgkin lymphoma 1 B-cell NHL Category Group of disorders UMLS C0079731 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015759 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 57 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 Glycogen storage disease due to aldolase A deficiency 1 GSD due to aldolase A deficiency GSD type 12 Glycogen storage disease type 12 Glycogenosis due to aldolase A deficiency Glycogenosis type 12 GSD type XII Glycogen storage disease type XII Glycogenosis type XII Disease Disorder OMIM 611881 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0272066 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562718 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E74.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 5C51.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1187107383 1020924235 GARD 600 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012747 E (Exact mapping: the two concepts are equivalent) Validated Definition Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported. 171895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171895 Myeloid hemopathy 1 Category Group of disorders MONDO 0015756 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680514 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 171898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171898 Lymphoid hemopathy 1 Category Group of disorders MONDO 0015757 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680515 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 172973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172973 OBSOLETE: Congenital myopathy with protein accumulation 8192 Inactive 16 Obsolete entity Category Group of disorders 97245 Congenital myopathy Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Congenital myopathy 249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249 Fibrous dysplasia of bone 1 Malformation syndrome Disorder MONDO 845 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 FB80.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1704766818 1704766818 GARD 6444 E (Exact mapping: the two concepts are equivalent) Validated MeSH D005357 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0259779 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10016664 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q78.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0000845 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits. 172976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172976 Congenital myopathy with cores 1 Clinical group Group of disorders UMLS C5680516 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 2334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334 Autosomal dominant keratitis 1 Hereditary keratitis Disease Disorder GARD 3089 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0007848 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 9A7Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#980864631%2fother 682617640 ICD-10 H16.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C537022 E (Exact mapping: the two concepts are equivalent) Validated OMIM 148190 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1835698 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia. 171918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171918 T-cell non-Hodgkin lymphoma 1 T-cell NHL Category Group of disorders MedDRA 10025321 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015760 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0079772 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 Leydig cell hypoplasia 1 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency Disease Disorder OMIM 238320 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0019155 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562567 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2A.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#749282256 472787488 UMLS C0860158 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10024406 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q56.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 3244 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare 46,XY difference of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias. 171929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929 Trisomy 10p syndrome 1 Malformation syndrome Disorder MONDO 0015761 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4082793 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q92.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 5299 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD41.91 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1720386511 442413368 Definition Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. 187 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187 Citrullinemia 1 Category Group of disorders ICD-11 5C50.A3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#640937125 640937125 MeSH D020159 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0175683 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015991 E (Exact mapping: the two concepts are equivalent) Validated Definition Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency). 46 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 Adenylosuccinate lyase deficiency 1 ADSL deficiency Adenylosuccinase deficiency Disease Disorder MONDO 0007068 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C55.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1958565793%2fother 1725611919 GARD 550 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E79.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 103050 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538235 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0268126 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10081681 E (Exact mapping: the two concepts are equivalent) Validated Definition A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. 442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442 Congenital hypothyroidism 1 Category Group of disorders MONDO 0018612 E (Exact mapping: the two concepts are equivalent) Validated MeSH D003409 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0010308 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10010510 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A00.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#602450215 602450215 GARD 1487 E (Exact mapping: the two concepts are equivalent) Validated Definition Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth. 43 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 X-linked adrenoleukodystrophy 1 ALD X-ALD X-linked ALD Disease Disorder MedDRA 10051260 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E71.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 300100 E (Exact mapping: the two concepts are equivalent) Validated OMIM 302700 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0162309 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C57.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1092479335 485676510 GARD 5758 E (Exact mapping: the two concepts are equivalent) Validated MeSH D000326 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy. 3166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 Sialuria 1 Sialuria, French type Disease Disorder GARD 4865 E (Exact mapping: the two concepts are equivalent) Validated OMIM 269921 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0342853 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0010028 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E77.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 5C56.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1709765980 154329034 Definition A rare disorder of sialic acid metabolism characterized by excretion of large quantities of free sialic acid (predominantly N-acetylneuraminic acid without any morphologic evidence of storage within any subcellular organelle), mildly coarse facial features and hepatosplenomegaly. Growth and development are rather normal, however some affected individuals were reported to have moderate developmental delay, slight motor delay and mild intellectual impairment. Additional clinical features may involve macrocephaly, mild small airway obstruction, frequent upper respiratory tract infections, transient failure to thrive, seizures and sleep apnea. Signs and symptoms can be transient, especially in infancy. 2882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 Sitosterolemia 1 Phytosterolemia Disease Disorder GARD 7653 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537345 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0342907 E (Exact mapping: the two concepts are equivalent) Validated OMIM 210250 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618666 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0008863 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C52.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#110330300%2fother 808135226 MedDRA 10063985 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E78.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated 101022 Mediterranean macrothrombocytopenia Moved to Definition Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5</i> (2p21) and <i>ABCG8</i> (2p21) genes. 810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=810 Shigellosis 1 Disease Disorder MedDRA 10054178 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A03.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A03.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A03.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A03.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0013371 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A03.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A03.3 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 4818 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0019345 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 1A02 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2080365623 2080365623 Definition A rare bacterial infectious disease characterized by dysentery caused by Shigella. There are four species (S. dysenteriae, S. flexneri, S. boydii and S. sonnei), all of which cause bacillary dysentery and are strictly limited to human hosts. Affected individuals present with dysenteric syndrome with 10-30 glairy, bloody and watery stools per day, a high temperature (40°C), abdominal pain/cramps and tenesmus following an incubation period of 2-3 days. 3165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165 Eosinophilic fasciitis 1 Diffuse fasciitis with eosinophilia Shulman syndrome Disease Disorder GARD 6351 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A43.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1977389237 1977389237 UMLS C0264005 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10014954 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M35.4 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 226350 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009175 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562487 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare idiopathic inflammatory myopathy that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed. 2420 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420 Primary pulmonary lymphoma 1 Disease Disorder MONDO 0016570 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10037418 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 C85.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 2C25.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#316539081%2fother 1042489672 UMLS C4273669 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare neoplastic disease defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG). 727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727 Microscopic polyangiitis 1 MPA Micropolyangiitis Microscopic polyarteritis Disease Disorder ICD-10 M31.7 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 4A44.A0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#999231798 999231798 GARD 3652 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0019124 E (Exact mapping: the two concepts are equivalent) Validated MeSH D055953 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2347126 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10063344 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves. 900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 Granulomatosis with polyangiitis 1 GPA Wegener granulomatosis Disease Disorder MeSH D014890 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 M31.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MedDRA 10072579 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012105 E (Exact mapping: the two concepts are equivalent) Validated OMIM 608710 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A44.A1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1020056159 1020056159 UMLS C3495801 E (Exact mapping: the two concepts are equivalent) Validated GARD 7880 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia. 3185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3185 NON RARE IN EUROPE: Polycystic ovary syndrome 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: PCOS NON RARE IN EUROPE: Polycystic ovarian syndrome NON RARE IN EUROPE: Stein-Leventhal syndrome Disease Disorder ICD-10 E28.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=863 Trichinellosis 1 Trichinosis Disease Disorder MeSH D014235 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10044608 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B75 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 1F6E E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#284613639 284613639 UMLS C0040896 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0019444 E (Exact mapping: the two concepts are equivalent) Validated GARD 5250 E (Exact mapping: the two concepts are equivalent) Validated Definition Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus <i>Trichinella</i> and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur. 171695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695 Parkinsonian-pyramidal syndrome 1 Pallidopyramidal syndrome Disease Disorder ICD-10 G20 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated GARD 9175 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538104 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009830 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A00.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#598493320%2fother 1128311778 UMLS C1850100 E (Exact mapping: the two concepts are equivalent) Validated OMIM 168100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 168601 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 260300 E (Exact mapping: the two concepts are equivalent) Validated Definition Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism). 134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 Beta-ketothiolase deficiency 1 3-ketothiolase deficiency 3-oxothiolase deficiency Alpha methylacetoacetic aciduria Alpha-methyl-acetoacetyl-CoA thiolase deficiency Mitochondrial acetoacetyl-coenzyme A thiolase deficiency T2 deficiency Disease Disorder GARD 872 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10067728 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0008760 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1536500 E (Exact mapping: the two concepts are equivalent) Validated OMIM 203750 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E71.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 5C50.DY NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#5456505%2fother 2139994596 MeSH C535434 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence. 171700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171700 Diffuse panbronchiolitis 1 Disease Disorder MONDO 0011490 E (Exact mapping: the two concepts are equivalent) Validated GARD 8526 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536174 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0878555 E (Exact mapping: the two concepts are equivalent) Validated OMIM 604809 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10062952 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 J44.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 CA26.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#291357751 291357751 Definition Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis 984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984 Pulmonary agenesis 1 Morphological anomaly Disorder ICD-11 LA75.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#134836096 134836096 MedDRA 10037322 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q33.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0265780 E (Exact mapping: the two concepts are equivalent) Validated MeSH C562992 E (Exact mapping: the two concepts are equivalent) Validated GARD 9119 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0020110 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension. 171703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome 1 Malformation syndrome Disorder ICD-10 Q04.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0015745 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4750772 E (Exact mapping: the two concepts are equivalent) Validated Definition Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. 171706 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency 1 Disease Disorder ICD-10 E03.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 619855 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620198 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C4706661 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5A00.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#602450215%2fother OMIM 609698 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. 171709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709 Male infertility due to globozoospermia 1 Round-headed sperm syndrome Male infertility due to round-headed spermatozoa Clinical subtype Subtype of disorder GARD 12502 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 N46 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C5679591 E (Exact mapping: the two concepts are equivalent) Validated OMIM 618420 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 102530 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613958 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0015746 E (Exact mapping: the two concepts are equivalent) Validated Definition Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent. 171714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171714 Amish infantile epilepsy syndrome 8192 Inactive 256 Deprecated entity 1 Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome Disease Disorder UMLS C1836824 E (Exact mapping: the two concepts are equivalent) Validated 370933 GM3 synthase deficiency Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GM3 synthase deficiency 171719 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719 Cutis laxa-Marfanoid syndrome 512 Historical entity 1 Malformation syndrome Disorder MONDO 0013574 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD28.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2024159409 467492754 MeSH C563639 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0432335 E (Exact mapping: the two concepts are equivalent) Validated OMIM 614100 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991. 1163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1163 Aspergillosis 1 Disease Disorder MeSH D001228 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0004030 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10003488 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B44.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B44.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B44.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B44.7 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B44.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B44.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 614079 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 1F20 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1913468488 1913468488 ICD-11 1F20.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1314810340 1314810340 ICD-11 1F20.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2043496606 2043496606 MONDO 0005657 E (Exact mapping: the two concepts are equivalent) Validated GARD 5856 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare infectious disease caused by inhalation of the opportunistic fungus <i>aspergillus</i> that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar. 171723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723 White sponge nevus 1 Hereditary mucosal leukokeratosis White sponge nevus of Cannon Disease Disorder UMLS C1721005 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015748 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 DA02.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1283926457 1579656080 MeSH D053529 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10072666 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q38.6 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated OMIM 193900 E (Exact mapping: the two concepts are equivalent) Validated OMIM 615785 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 8501 E (Exact mapping: the two concepts are equivalent) Validated Definition White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. 3467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 Hereditary xanthinuria 1 Classic xanthinuria Xanthic urolithiasis Xanthine stone disease Disease Disorder UMLS C5779508 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C55.00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1565213608 1565213608 MONDO 0018106 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E79.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 278300 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 603592 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. 171673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171673 Limbal stem cell deficiency 1 Disease Disorder MedDRA 10072138 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0025667 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 H18.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH D000092423 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 9A7Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#980864631%2fother null UMLS C1561989 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors). 171676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171676 NON RARE IN EUROPE: Periventricular leukomalacia 8192 Inactive 1 32 Non-rare disease in Europe Particular clinical situation in a disease or syndrome Disorder ICD-10 P91.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 Maple syrup urine disease 1 BCKD deficiency BCKDH deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria MSUD Disease Disorder OMIM 615135 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-11 5C50.D0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1623706568 1623706568 OMIM 620698 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620699 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0009563 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E71.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MeSH D008375 E (Exact mapping: the two concepts are equivalent) Validated OMIM 248600 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0024776 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10026817 E (Exact mapping: the two concepts are equivalent) Validated GARD 3228 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD. 171680 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 Lissencephaly due to TUBA1A mutation 1 Malformation syndrome Disorder UMLS C4305153 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012703 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD20.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#805385297 1006889224 OMIM 611603 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q04.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. 32 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 Glutathione synthetase deficiency 1 Pyroglutamicaciduria Disease Disorder ICD-11 3A10.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2071787420%2fother 2135206332 OMIM 231900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 266130 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0017909 E (Exact mapping: the two concepts are equivalent) Validated GARD 10047 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536835 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0398746 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D55.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MedDRA 10079364 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. 171684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171684 Idiopathic bilateral vestibulopathy 1 Disease Disorder MONDO 0015743 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 H81.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4545229 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 AB34.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1394072237 1394072237 Definition Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo. 171690 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690 Metabolic myopathy due to lactate transporter defect 1 Erythrocyte lactate transporter defect Disease Disorder ICD-10 G72.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0009501 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1855577 E (Exact mapping: the two concepts are equivalent) Validated MeSH C565449 E (Exact mapping: the two concepts are equivalent) Validated OMIM 245340 E (Exact mapping: the two concepts are equivalent) Validated Definition Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. 26 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 Methylmalonic acidemia with homocystinuria 1 Combined defect in adenosylcobalamin and methylcobalamin synthesis Methylmalonic aciduria with homocystinuria Disease Disorder OMIM 277380 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 277400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 277410 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614857 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C5848324 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016826 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 5C50.E0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1879509617 1836722766 GARD 3579 E (Exact mapping: the two concepts are equivalent) Validated MeSH C537359 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 E71.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). 171863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863 Autosomal dominant spastic paraplegia type 42 1 SPG42 Disease Disorder OMIM 618087 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C567262 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012928 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 8B44.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1547801209 661411419 UMLS C2675528 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612539 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated Definition A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. 171860 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171860 OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome 8192 Inactive 16 Obsolete entity Disease Disorder 324737 SRD5A3-CDG Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using SRD5A3-CDG 171871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871 Renal pseudohypoaldosteronism type 1 1 Renal PHA1 Autosomal dominant pseudohypoaldosteronism type 1 Autosomal dominant PHA1 Clinical subtype Subtype of disorder MONDO 0008329 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 GB90.41 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1576878036 1829275943 GARD 9145 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1449842 E (Exact mapping: the two concepts are equivalent) Validated OMIM 177735 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 N25.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. 322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 Exstrophy-epispadias complex 1 BEEC Bladder exstrophy-epispadias-cloacal extrophy complex EEC Malformation syndrome Disorder OMIM 258040 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600057 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q64.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MeSH C564009 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0017919 E (Exact mapping: the two concepts are equivalent) Validated GARD 2207 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1838703 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare non-syndromic uro-genital tract malformation characterized by a spectrum of manifestations ranging in severity: epispadias (E) is the mildest form, classic exstrophy of the bladder (CEB) is the intermediate form and cloacal exstrophy (CE) the most severe form. Exstrophy-epispadias complex (EEC) involves the bladder, the genitalia, the lower abdominal wall, the pelvis and pelvic floor, and depending on the phenotype, the spine and the anus. 171866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 Spondyloepimetaphyseal dysplasia, aggrecan type 1 SEMD, aggrecan type Disease Disorder MONDO 0013014 E (Exact mapping: the two concepts are equivalent) Validated UMLS C2748544 E (Exact mapping: the two concepts are equivalent) Validated GARD 10513 E (Exact mapping: the two concepts are equivalent) Validated MeSH C567558 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD24.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1977414063 1133152894 ICD-10 Q77.7 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 612813 E (Exact mapping: the two concepts are equivalent) Validated Definition Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. 2368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 Gastroschisis 1 Laparoschisis Morphological anomaly Disorder OMIM 230750 E (Exact mapping: the two concepts are equivalent) Validated MeSH D020139 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0265706 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10018046 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB02 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#551758329 551758329 ICD-10 Q79.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MONDO 0009264 E (Exact mapping: the two concepts are equivalent) Validated GARD 8661 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac. 171881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881 Cap myopathy 1 Cap disease Disease Disorder UMLS C3710589 E (Exact mapping: the two concepts are equivalent) Validated MeSH C579969 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0015753 E (Exact mapping: the two concepts are equivalent) Validated GARD 11915 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 609284 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 609285 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated ICD-11 8C72.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#854289056%2fother 482118421 Definition Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. 2512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 Autosomal recessive primary microcephaly 1 MCPH Microcephalia vera Microcephaly vera True microcephaly Etiological subtype Subtype of disorder OMIM 620047 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 619453 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617984 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617983 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617985 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618179 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618351 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618665 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH C579935 E (Exact mapping: the two concepts are equivalent) Validated OMIM 251200 E (Exact mapping: the two concepts are equivalent) Validated OMIM 604317 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 604321 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 603802 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 604804 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608393 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 608716 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617800 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612703 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614673 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614852 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616051 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616080 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616402 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616486 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 616681 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 620183 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617914 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 Q02 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated ICD-11 LA05.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated https://icd.who.int/browse/latest-release/mms/en#179350437 null OMIM 615414 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 617090 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C3711387 E (Exact mapping: the two concepts are equivalent) Validated OMIM 617432 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 12117 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016660 E (Exact mapping: the two concepts are equivalent) Validated 52183 Premature chromosome condensation with microcephaly and intellectual disability Moved to Definition Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. 2913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913 Non-syndromic polydactyly 1 Category Group of disorders GARD 4410 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10036063 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB78 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1534380955 1534380955 MONDO 0011348 E (Exact mapping: the two concepts are equivalent) Validated OMIM 603596 E (Exact mapping: the two concepts are equivalent) Validated MeSH D017689 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0152427 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 171876 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876 Generalized pseudohypoaldosteronism type 1 1 Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive PHA1 Generalized PHA1 Clinical subtype Subtype of disorder MONDO 0009917 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 GB90.41 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1576878036 2096118492 UMLS C1449843 E (Exact mapping: the two concepts are equivalent) Validated GARD 4552 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 N25.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 264350 E (Exact mapping: the two concepts are equivalent) Validated Definition A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss. 795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=795 Rare form of salmonellosis 1 Category Group of disorders MedDRA 10039447 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5680518 E (Exact mapping: the two concepts are equivalent) Validated Definition Rare form of salmonellosis is a group of rare invasive salmonellosis that includes infection with <i>Salmonella enterica</i> typhoidal species (<i>S.</i> typhi and <i>S.</i> paratyphi) that results in enteric fever, and infection by invasive non-typhoidal species (typically strains of <i>S.</i> typhimurium and <i>S.</i> enteritidis) which have a high burden amongst immunocompromised or malnourished individuals, and results in bacteriemia, systemic febrile disease, and variable manifestations including lower respiratory tract infection and splenomegaly. 171889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171889 Myopathy with hexagonally cross-linked tubular arrays 1 Disease Disorder MONDO 0015755 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8C72.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#854289056%2fother 1953170361 ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C4707259 E (Exact mapping: the two concepts are equivalent) Validated Definition Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. 797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 Sarcoidosis 1 Besnier-Boeck-Schaumann disease Boeck sarcoid Disease Disorder GARD 7607 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D86.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 D86.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 181000 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612387 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612388 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D012507 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0036202 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10039486 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4B20.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1437015591 1437015591 ICD-10 D86.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 4B20.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#820827059 820827059 MONDO 0019338 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4B20.5 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1145144140 1145144140 ICD-11 4B20.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1434414203 1434414203 ICD-11 4B20.3 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1479285656 1479285656 ICD-11 4B20.4 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1479285656 1980319000 ICD-10 D86.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 D86.3 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 D86.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 4B20 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#330792642 330792642 Definition A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome. 171886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171886 Cylindrical spirals myopathy 1 Disease Disorder ICD-11 8C72.0Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#854289056%2fother 1555346098 GARD 11906 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G71.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0008058 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4706943 E (Exact mapping: the two concepts are equivalent) Validated Definition Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. 171836 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171836 Amelogenesis imperfecta-gingival hyperplasia syndrome 8192 Inactive 256 Deprecated entity 1 Disease Disorder 1031 Enamel-renal syndrome Moved to This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Enamel-renal syndrome 92 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92 Juvenile idiopathic arthritis 1 Juvenile chronic arthritis Juvenile rheumatoid arthritis Clinical group Group of disorders MedDRA 10059176 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 FA24 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1322678686 1322678686 MONDO 0011429 E (Exact mapping: the two concepts are equivalent) Validated MeSH D001171 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3495559 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, heterogeneous group of rheumatologic diseases characterized by arthritis which has an onset before 16 years of age, persists for more than 6 weeks, and is of unknown origin. 171829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 6q16 microdeletion syndrome 1 Del(6)(q16) Monosomy 6q16 Prader-Willi-like syndrome due to microdeletion 6q16 Disease Disorder MONDO 0015749 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD29 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#525044219 933075788 ICD-10 Q93.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated UMLS C5438727 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. 1201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 Small bowel atresia 1 Atresia of small bowel SBA Jejunal atresia Jejunoileal atresia Small intestinal atresia Atresia of small intestine Morphological anomaly Disorder MedDRA 10010626 E (Exact mapping: the two concepts are equivalent) Validated MeSH C538260 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q41.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q41.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q41.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q41.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 243600 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0266172 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB15.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1949256262 1949256262 MONDO 0009476 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q41.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 140 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction. 171844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 Blindness-scoliosis-arachnodactyly syndrome 1 Malformation syndrome Disorder ICD-11 LD28.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1178222588%2fother 1971955953 ICD-10 Q87.5 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0012907 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4303548 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612445 E (Exact mapping: the two concepts are equivalent) Validated Definition This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. 171839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome 1 Berant syndrome Capra-DeMarco syndrome Familial scaphocephaly-radioulnar synostosis syndrome Malformation syndrome Disorder ICD-11 LD2F.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother 312778814 MONDO 0015751 E (Exact mapping: the two concepts are equivalent) Validated UMLS C3267187 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q87.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated Definition A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. 1202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202 Larynx atresia 1 Malformation syndrome Disorder MONDO 0007879 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA71.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#2041437327%2fother 798758075 UMLS C0265756 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q31.8 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 150300 E (Exact mapping: the two concepts are equivalent) Validated GARD 3194 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities. 1199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199 Esophageal atresia 1 CEA Congenital esophageal atresia Oesophageal atresia Esophageal atresia with or without trachea-esophageal fistula EA/TEF Morphological anomaly Disorder MeSH D004933 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0014850 E (Exact mapping: the two concepts are equivalent) Validated OMIM 189960 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10030146 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LB12.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1582061097 1582061097 ICD-10 Q39.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q39.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 6381 E (Exact mapping: the two concepts are equivalent) Validated 2042 OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome Referred to Definition A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress. 171851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 MEDNIK syndrome 1 Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome Disease Disorder ICD-10 E83.0 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 609313 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0012251 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2H.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#186534168%2fother 153548027 UMLS C1836330 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia. 171848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome 1 Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome PHARC syndrome Peripheral neuropathy, Fiskerstrand type Disease Disorder ICD-10 G60.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated MONDO 0012984 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4509920 E (Exact mapping: the two concepts are equivalent) Validated OMIM 612674 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LD2H.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#186534168%2fother 865501832 Definition A rare neurologic syndrome with peripheral neuropathy characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. Polyneuropathy presents with slowly progressive and often demyelinating sensorimotor neuropathy where pes cavus, decreased sensation and hyporeflexia may appear as early signs. Hearing loss is progressive, usually bilateral and presents with childhood/early adolescent-onset whereas patients develop retinis pigmentosa and cataracts (typically posterior subcapsular) often in early to mid-adulthood. Ataxia may manifest with gait instability/spasticity, dysarthria, intention tremor and dysmetria of the limbs. Additional clinical features may include tendon abnormalities, hyperreflexia, extensor plantar responses. Seizures and mild intellectual disability is reported in few patients. 1304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1304 Brucellosis 1 Disease Disorder ICD-10 A23.3 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A23.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A23.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated UMLS C0006309 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10006500 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A23.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A23.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 1B95 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#730510331 730510331 MONDO 0005683 E (Exact mapping: the two concepts are equivalent) Validated MeSH D002006 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A23.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 5966 E (Exact mapping: the two concepts are equivalent) Validated Definition Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus <i>Brucella</i> transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis. 173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=173 Cholera 1 Disease Disorder MONDO 0015766 E (Exact mapping: the two concepts are equivalent) Validated MeSH D002771 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0008354 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A00.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 A00.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MedDRA 10008631 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A00.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 1A00 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#257068234 257068234 GARD 6043 E (Exact mapping: the two concepts are equivalent) Validated Definition Cholera is an infectious disease, caused by intestinal infection with <i>Vibrio cholerae</i>, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated. 1428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1428 OBSOLETE: Familial chondromalacia patellae 8192 Inactive 16 Obsolete entity Disease Disorder 93455 Patellar dysostosis Referred to This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Patellar dysostosis 200037 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200037 Paroxysmal dystonia 1 Clinical group Group of disorders UMLS C0393588 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A02.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#2047715743 2047715743 MONDO 0016058 E (Exact mapping: the two concepts are equivalent) Validated This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. 3303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303 Tetralogy of Fallot 1 Malformation syndrome Disorder OMIM 618780 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated OMIM 617912 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MeSH D013771 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0039685 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10016193 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q21.3 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 LA88.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en# 90973426 90973426 MONDO 0008542 E (Exact mapping: the two concepts are equivalent) Validated GARD 2245 E (Exact mapping: the two concepts are equivalent) Validated OMIM 187500 E (Exact mapping: the two concepts are equivalent) Validated Definition Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. 200418 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418 Immunodeficiency with factor I anomaly 1 Complete factor I deficiency Disease Disorder ICD-11 4A00.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1222145690%2fother 182877663 MONDO 0012594 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5191010 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D84.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 610984 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> and <i>Streptococcus pneumoniae</i>), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. 730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730 Autosomal dominant polycystic kidney disease 1 ADPKD Disease Disorder OMIM 620056 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 618061 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated UMLS C0085413 E (Exact mapping: the two concepts are equivalent) Validated OMIM 173900 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613095 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 600666 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated ICD-10 Q61.2 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 620903 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 10413 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0004691 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 GB81 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#91220434 91220434 MeSH D016891 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10036046 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). 200421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200421 Immunodeficiency with factor H anomaly 1 Disease Disorder UMLS C0398777 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4A00.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1222145690%2fother 946399055 MeSH C562875 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D84.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 609814 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Validated MONDO 0016061 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i> Neisseria meningitidis</i>, <i>Escherichia coli</i>, and <i>Haemophilus influenzae</i>), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components. 486 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486 Autosomal dominant severe congenital neutropenia 1 Disease Disorder OMIM 619813 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated GARD 9558 E (Exact mapping: the two concepts are equivalent) Validated UMLS C4749612 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 4B00.00 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#87096615 148428676 ICD-10 D70 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 202700 E (Exact mapping: the two concepts are equivalent) Validated OMIM 257100 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613107 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MONDO 0008742 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. 1209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209 Tricuspid atresia 1 Morphological anomaly Disorder GARD 5274 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA89.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#845891723 845891723 ICD-10 Q22.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated OMIM 605067 E (Exact mapping: the two concepts are equivalent) Validated MeSH D018785 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0243002 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10049767 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0011514 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption. 199647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647 Isolated encephalocele 1 Morphological anomaly Disorder MeSH D004677 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10014617 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 Q01.0 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q01.1 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q01.2 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q01.8 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 Q01.9 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated GARD 6333 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016057 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA01 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1520916568 2115894108 UMLS C5680519 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus. 98 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 1 Autosomal recessive spastic ataxia type 6 ARSACS SPAX6 Disease Disorder MONDO 0010041 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 8A03.1Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#442347652%2fother 345074673 GARD 4910 E (Exact mapping: the two concepts are equivalent) Validated UMLS C1849140 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 G11.1 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 270550 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536787 E (Exact mapping: the two concepts are equivalent) Validated 2823 OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome Referred to Definition A rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, a pyramidal syndrome and peripheral neuropathy. 1480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1480 NON RARE IN EUROPE: Ventricular septal defect 8192 Inactive 1 32 Non-rare disease in Europe NON RARE IN EUROPE: VSD NON RARE IN EUROPE: Interventricular communication Morphological anomaly Disorder ICD-10 Q21.0 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. 1478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478 Interatrial communication 1 ASD Atrial septal defect Interauricular communication Morphological anomaly Disorder MedDRA 10003664 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 LA8E.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#654986527%2fother 1285985084 ICD-10 Q21.1 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated OMIM 108800 E (Exact mapping: the two concepts are equivalent) Validated OMIM 607941 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 611363 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 612794 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 613087 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614089 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614433 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated OMIM 614475 BTNT (ORPHAcode is broader than the targeted code used to represent it) Validated MeSH D006344 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0018817 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0006664 E (Exact mapping: the two concepts are equivalent) Validated Definition A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart. 330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330 Congenital factor XII deficiency 1 Congenital Hageman factor deficiency Disease Disorder GARD 6558 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 D68.2 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet) Validated OMIM 234000 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10051806 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0009315 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0015526 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3B15 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1795705470 2086126201 MeSH D005175 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. 1482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1482 Gonococcal conjunctivitis 1 Disease Disorder MONDO 0015455 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 A54.3+ E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 H13.1* NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated GARD 2546 E (Exact mapping: the two concepts are equivalent) Validated UMLS C5779547 E (Exact mapping: the two concepts are equivalent) Validated MeSH D009878 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 1A72.4 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1505778051 884042621 Definition A rare disorder of the anterior segment of the eye caused by <i>Neisseria gonorrhoeae</i>, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral. 1959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959 Evans syndrome 1 Autoimmune hemolytic anemia and autoimmune thrombocytopenia Immune pancytopenia Disease Disorder UMLS C0272126 E (Exact mapping: the two concepts are equivalent) Validated MedDRA 10053873 E (Exact mapping: the two concepts are equivalent) Validated ICD-11 3A20.5 E (Exact mapping: the two concepts are equivalent) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated https://icd.who.int/browse/latest-release/mms/en#1048228553 1048228553 ICD-10 D69.3 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code) Validated MeSH C536380 E (Exact mapping: the two concepts are equivalent) Validated MONDO 0016030 E (Exact mapping: the two concepts are equivalent) Validated GARD 6389 E (Exact mapping: the two concepts are equivalent) Validated Definition A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology. 284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284 Alveolar echinococcosis 1 Echinococcus multilocularis infection Disease Disorder MONDO 0017282 E (Exact mapping: the two concepts are equivalent) Validated GARD 207 E (Exact mapping: the two concepts are equivalent) Validated MeSH C536591 E (Exact mapping: the two concepts are equivalent) Validated UMLS C0152069 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B67.6 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-10 B67.7 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated MedDRA 10053042 E (Exact mapping: the two concepts are equivalent) Validated ICD-10 B67.5 BTNT (ORPHAcode is broader than the targeted code used to represent it) Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology) Validated ICD-11 1F73.Y NTBT (ORPHAcode is narrower than the targeted code used to represent it) Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation) Validated https://icd.who.int/browse/latest-release/mms/en#1456802165%2fother 1407575161 Definition A rare parasitic disorder that occurs after ingestion of eggs of <i>Echinococcus multilocularis</i> and c