Ana Rath Annie Olry Boulares Ouchenne David Lagorce Marc Hanauer Valérie Lanneau 2013-06-20T12:00:00 2022-12-02T15:15:42 4.2 curator_inference manual_assertion Relationship between a clinical entity and modes of inheritance. has_inheritance Relationship between clinical entity and age of onset. has_age_of_onset Relationship between a clinical entity and the geographical area for which epidemiological data (Epidemiology) is available. present_in Stable URL pointing to the specific page of a given disease on the Orphanet website expertlink Relation between two clinical entities, one being included in the other. Ex : clinical subtype part_of disease. part_of A mutation of a gene in a germ cell that is sufficient to cause the disorder and can be transmitted to the offspring. disease-causing germline mutation(s) in A mutation of a gene in a somatic cell that is sufficient to cause the disorder but can not be transmitted to the offspring. disease-causing somatic mutation(s) in A gene mutation in a germ cell that predisposes to the development of a disorder, and that is necessary but not sufficient to develop the disorder. major susceptibility factor in A gene mutation in a germ cell that modifies the clinical presentation of the disorder and that can be passed on to offspring. modifying germline mutation in A coding or regulatory DNA sequence from a gene that has fused with another coding and/or regulatory DNA sequence from a different gene. part of a fusion gene in A gene included in a chromosomal rearrangement, and proved to have a major influence in the phenotype of the chromosomal rearrangement. role in the phenotype of A gene in which a mutation is suspected, but not yet proven, to be responsible for a disorder, but for which a genetic test (s) is (are) available candidate gene tested in A mutation of a gene in a germ cell that alters the function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring. disease-causing germline mutation(s) (loss of function) in A mutation of a gene in a germ cell that results in a new function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring. disease-causing germline mutation(s) (gain of function) in A gene in which a variation is used to monitor disorder activity and/or patient outcome. biomarker tested in Relationship between a gene with protein product, non-coding RNA or disorder-associated locus and its cytogenetic location on the chromosome. has_chromosomal location A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations. Orphanet ICD-10:Q98.8 MeSH:D007713 MedDRA:10048230 UMLS:C2936741 Not applicable Unknown Adolescent Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 48,XXYY syndrome ORPHA:10 ICD-10:Q98.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:D007713 E (Exact mapping: the two concepts are equivalent) MedDRA:10048230 E (Exact mapping: the two concepts are equivalent) UMLS:C2936741 E (Exact mapping: the two concepts are equivalent) Louis-Bar syndrome A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer. Orphanet ICD-10:G11.3 ICD-11:4A01.31 MeSH:D001260 MedDRA:10003594 OMIM:208900 OMIM:208910 UMLS:C0004135 Autosomal recessive Childhood Infancy Europe AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia ORPHA:100 ICD-10:G11.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:4A01.31 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). MeSH:D001260 E (Exact mapping: the two concepts are equivalent) MedDRA:10003594 E (Exact mapping: the two concepts are equivalent) OMIM:208900 E (Exact mapping: the two concepts are equivalent) OMIM:208910 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0004135 E (Exact mapping: the two concepts are equivalent) Ocular albinism with late-onset sensorineural hearing loss 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. Orphanet ICD-10:E70.3 MeSH:C537043 OMIM:300650 UMLS:C1845069 X-linked recessive Adult Worldwide AND has_cases/families_value : 9.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 Ocular albinism with late-onset sensorineural deafness ORPHA:1000 ICD-10:E70.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537043 E (Exact mapping: the two concepts are equivalent) OMIM:300650 E (Exact mapping: the two concepts are equivalent) UMLS:C1845069 E (Exact mapping: the two concepts are equivalent) ICD-10:D36.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100000 Reticular perineurioma Clinical subtype ORPHA:100000 ICD-10:D36.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:D36.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100001 Sclerosing perineurioma Clinical subtype ORPHA:100001 ICD-10:D36.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). Soft tissue perineurioma Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization. Orphanet ICD-10:D36.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100002 Extraneural perineurioma ORPHA:100002 ICD-10:D36.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare. Orphanet ICD-10:D36.1 UMLS:C1370658 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100003 Intraneural perineurioma ORPHA:100003 ICD-10:D36.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C1370658 E (Exact mapping: the two concepts are equivalent) ABetaE22Q amyloidosis HCHWA, Dutch type HCHWA-D Hereditary cerebral hemorrhage with amyloidosis, Dutch type A form of hereditary cerebral hemorrhage with amyloidosis characterized by severe cerebral amyloid angiopathy (CAA), predominantly hemorrhagic strokes and dementia. Orphanet ICD-10:E85.4+ ICD-10:I68.0* MeSH:C537944 MeSH:D028243 OMIM:605714 UMLS:C0268394 UMLS:C2931672 Autosomal dominant Adult Worldwide AND has_cases/families_value : 250.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 ABeta amyloidosis, Dutch type Clinical subtype ORPHA:100006 ICD-10:E85.4+ - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:I68.0* - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537944 E (Exact mapping: the two concepts are equivalent) MeSH:D028243 E (Exact mapping: the two concepts are equivalent) OMIM:605714 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C0268394 E (Exact mapping: the two concepts are equivalent) UMLS:C2931672 E (Exact mapping: the two concepts are equivalent) CST3-related amyloidosis Cystatin amyloidosis HCHWA, Icelandic type Hereditary cerebral hemorrhage with amyloidosis, Icelandic type Hereditary cystatin C amyloid angiopathy A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the <i>CST3</i> gene (20p11.2), encoding the precursor protein cystatin C. Orphanet ICD-10:E85.4+ ICD-10:I68.0* OMIM:105150 UMLS:C1527338 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 9.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 ACys amyloidosis Clinical subtype ORPHA:100008 ICD-10:E85.4+ - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:I68.0* - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:105150 E (Exact mapping: the two concepts are equivalent) UMLS:C1527338 E (Exact mapping: the two concepts are equivalent) A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Orphanet ICD-10:Q04.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 Lissencephaly with cerebellar hypoplasia type A ORPHA:100011 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). A form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. Orphanet ICD-10:Q04.3 Worldwide AND has_cases/families_value : 50.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 Lissencephaly with cerebellar hypoplasia type B ORPHA:100012 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. Orphanet ICD-10:Q04.3 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 Lissencephaly with cerebellar hypoplasia type C ORPHA:100013 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). A form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (&#8804; -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Orphanet ICD-10:Q04.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 Lissencephaly with cerebellar hypoplasia type D ORPHA:100014 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Orphanet ICD-10:Q04.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 Lissencephaly with cerebellar hypoplasia type E ORPHA:100015 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. Orphanet ICD-10:Q04.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 Lissencephaly with cerebellar hypoplasia type F ORPHA:100016 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). RAEB-1 A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months. Orphanet ICD-10:D46.2 UMLS:C1318550 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019 Refractory anemia with excess blasts type 1 Clinical subtype ORPHA:100019 ICD-10:D46.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C1318550 E (Exact mapping: the two concepts are equivalent) RAEB-2 A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months. Orphanet ICD-10:D46.2 UMLS:C1318551 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020 Refractory anemia with excess blasts type 2 Clinical subtype ORPHA:100020 ICD-10:D46.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C1318551 E (Exact mapping: the two concepts are equivalent) ICD-10:C90.3 ICD-11:2A83.2 United States AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021 Primary plasmacytoma of the bone Clinical subtype ORPHA:100021 ICD-10:C90.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:2A83.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:C90.2 ICD-11:2A83.2 United States AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022 Extramedullary soft tissue plasmacytoma Clinical subtype ORPHA:100022 ICD-10:C90.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:2A83.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Specific code (The ORPHA code has its own code in the ICD). mu-HCD A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Orphanet ICD-10:C88.2 ICD-11:2A84.2 UMLS:C0242310 Adult Worldwide AND has_cases/families_value : 35.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024 Mu-heavy chain disease Clinical subtype ORPHA:100024 ICD-10:C88.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:2A84.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). UMLS:C0242310 E (Exact mapping: the two concepts are equivalent) Alpha-HCD IPSID Immunoproliferative small intestinal disease Mediterranean lymphoma A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption. Orphanet ICD-10:C88.3 ICD-11:2A84.0 UMLS:C0021071 Adolescent Adult Worldwide AND has_cases/families_value : 400.0 (Case) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025 Alpha-heavy chain disease Clinical subtype ORPHA:100025 ICD-10:C88.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:2A84.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). UMLS:C0021071 E (Exact mapping: the two concepts are equivalent) Franklin disease Gamma-HCD A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases. Orphanet ICD-10:C88.2 ICD-11:2A84.1 UMLS:C0018854 Adult Worldwide AND has_cases/families_value : 120.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026 Gamma-heavy chain disease Clinical subtype ORPHA:100026 ICD-10:C88.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:2A84.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). UMLS:C0018854 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 1 ICD-10:K00.5 OMIM:104500 OMIM:104530 OMIM:204650 OMIM:301201 OMIM:616221 OMIM:616270 OMIM:617297 UMLS:C0399367 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100031 Hypoplastic amelogenesis imperfecta Clinical subtype ORPHA:100031 OMIM:301201 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:616221 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:616270 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:617297 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0399367 E (Exact mapping: the two concepts are equivalent) ICD-10:K00.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:104500 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:104530 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:204650 BTNT (ORPHA code's Broader Term maps to a Narrower Term) Amelogenesis imperfecta type 3 ICD-10:K00.5 OMIM:130900 OMIM:616221 OMIM:617607 UMLS:C0399376 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032 Hypocalcified amelogenesis imperfecta Clinical subtype ORPHA:100032 ICD-10:K00.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:130900 E (Exact mapping: the two concepts are equivalent) OMIM:616221 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:617607 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0399376 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 2 ICD-10:K00.5 MeSH:C536606 OMIM:204700 OMIM:301200 OMIM:612529 OMIM:613211 OMIM:614832 OMIM:615887 OMIM:617217 UMLS:C0399372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033 Hypomaturation amelogenesis imperfecta Clinical subtype ORPHA:100033 ICD-10:K00.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536606 E (Exact mapping: the two concepts are equivalent) OMIM:204700 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:301200 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:612529 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:613211 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:614832 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615887 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:617217 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0399372 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 4 ICD-10:K00.5 OMIM:104510 UMLS:C0399373 UMLS:C1863012 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Clinical subtype ORPHA:100034 ICD-10:K00.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:104510 E (Exact mapping: the two concepts are equivalent) UMLS:C0399373 E (Exact mapping: the two concepts are equivalent) UMLS:C1863012 E (Exact mapping: the two concepts are equivalent) Hepatic solitary necrotic nodule A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort. Orphanet ICD-10:D13.4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100035 Solitary necrotic nodule of the liver ORPHA:100035 ICD-10:D13.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Dehydrated hereditary stomatocytosis ICD-10:D58.8 OMIM:177720 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100039 Familial pseudohyperkalemia type 1 ORPHA:100039 ICD-10:D58.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:177720 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial pseudohyperkalemia https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100040 OBSOLETE: Familial pseudohyperkalemia type 2 ORPHA:100040 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial pseudohyperkalemia https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100041 OBSOLETE: Familial pseudohyperkalemia, Cardiff type ORPHA:100041 CMTDIA A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. Orphanet ICD-10:G60.0 OMIM:606483 UMLS:C1847896 Autosomal dominant Adult Worldwide AND has_cases/families_value : 20.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ORPHA:100043 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:606483 E (Exact mapping: the two concepts are equivalent) UMLS:C1847896 E (Exact mapping: the two concepts are equivalent) CMTDIB A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. Orphanet ICD-10:G60.0 OMIM:606482 UMLS:C1847902 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 37.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ORPHA:100044 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:606482 E (Exact mapping: the two concepts are equivalent) UMLS:C1847902 E (Exact mapping: the two concepts are equivalent) CMTDIC A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. Orphanet ICD-10:G60.0 OMIM:608323 UMLS:C1842237 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 35.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ORPHA:100045 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:608323 E (Exact mapping: the two concepts are equivalent) UMLS:C1842237 E (Exact mapping: the two concepts are equivalent) CMTDID A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. Orphanet ICD-10:G60.0 OMIM:607791 UMLS:C1843075 Autosomal dominant Adult Worldwide AND has_cases/families_value : 12.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ORPHA:100046 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:607791 E (Exact mapping: the two concepts are equivalent) UMLS:C1843075 E (Exact mapping: the two concepts are equivalent) A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported. Orphanet ICD-10:Q39.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100047 Esophageal duplication cyst ORPHA:100047 ICD-10:Q39.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood. Orphanet ICD-10:Q39.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100048 Tubular duplication of the esophagus ORPHA:100048 ICD-10:Q39.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Primary ILD specific to childhood due to pulmonary surfactant protein anomalies A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation. Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Category ORPHA:100049 HAE 1 HAE-I Hereditary angioneurotic edema type 1 A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:D84.1 MeSH:C538577 OMIM:106100 UMLS:C0398775 UMLS:C2717906 Autosomal dominant All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.54 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050 Hereditary angioedema type 1 Etiological subtype ORPHA:100050 ICD-10:D84.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C538577 E (Exact mapping: the two concepts are equivalent) OMIM:106100 E (Exact mapping: the two concepts are equivalent) UMLS:C0398775 E (Exact mapping: the two concepts are equivalent) UMLS:C2717906 E (Exact mapping: the two concepts are equivalent) HAE 2 HAE-II Hereditary angioneurotic edema type 2 Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:D84.1 OMIM:106100 UMLS:C0398776 UMLS:C1862892 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051 Hereditary angioedema type 2 Etiological subtype ORPHA:100051 ICD-10:D84.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:106100 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C0398776 E (Exact mapping: the two concepts are equivalent) UMLS:C1862892 E (Exact mapping: the two concepts are equivalent) F12-related HAE with normal C1 inhibitor HAE 3 HAE-III Hereditary angioedema type 3 Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:D84.1 MeSH:D056828 OMIM:610618 UMLS:C1857728 UMLS:C1960459 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054 F12-related hereditary angioedema with normal C1Inh Clinical subtype ORPHA:100054 ICD-10:D84.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:D056828 E (Exact mapping: the two concepts are equivalent) OMIM:610618 E (Exact mapping: the two concepts are equivalent) UMLS:C1857728 E (Exact mapping: the two concepts are equivalent) UMLS:C1960459 E (Exact mapping: the two concepts are equivalent) AAE 2 AAE II Acquired angioneurotic edema type 2 A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:T78.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100055 Acquired angioedema type 2 Clinical subtype ORPHA:100055 ICD-10:T78.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Acquired angioneurotic edema type 1 A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:T78.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100056 Acquired angioedema type 1 Clinical subtype ORPHA:100056 ICD-10:T78.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ACE inhibitor-related acquired angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1 inhibitor Acquired angioedema with normal C1INH RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:T78.3 OMIM:300909 Multigenic/multifactorial Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema ORPHA:100057 ICD-10:T78.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:300909 BTNT (ORPHA code's Broader Term maps to a Narrower Term) ICD-10:A39.1+ ICD-10:E35.1* ICD-11:1C1C.1 MeSH:D014884 MedDRA:10047847 UMLS:C0043068 UMLS:C1403891 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100067 Waterhouse-Friderichsen syndrome Clinical subtype ORPHA:100067 ICD-10:A39.1+ - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:E35.1* - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:1C1C.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MeSH:D014884 E (Exact mapping: the two concepts are equivalent) MedDRA:10047847 E (Exact mapping: the two concepts are equivalent) UMLS:C0043068 E (Exact mapping: the two concepts are equivalent) UMLS:C1403891 E (Exact mapping: the two concepts are equivalent) Semantic primary progressive aphasia Semantic variant PPA Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. Orphanet ICD-10:G31.0 OMIM:172700 OMIM:600274 UMLS:C0338462 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 Semantic dementia ORPHA:100069 ICD-10:G31.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:172700 NTBT (ORPHA code's Narrower Term maps to a Broader Term) OMIM:600274 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C0338462 E (Exact mapping: the two concepts are equivalent) Agramatic variant of PPA Agramatic variant of primary progressive aphasia Non-fluent variant PPA Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. Orphanet ICD-10:G31.0 MeSH:D057178 MedDRA:10029542 OMIM:172700 OMIM:600274 OMIM:607485 UMLS:C0751706 Multigenic/multifactorial Not applicable Adult Europe AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 Progressive non-fluent aphasia ORPHA:100070 ICD-10:G31.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:D057178 E (Exact mapping: the two concepts are equivalent) MedDRA:10029542 E (Exact mapping: the two concepts are equivalent) OMIM:172700 NTBT (ORPHA code's Narrower Term maps to a Broader Term) OMIM:600274 NTBT (ORPHA code's Narrower Term maps to a Broader Term) OMIM:607485 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C0751706 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 3 Trisomy 3 mosaicism Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. Orphanet ICD-10:Q92.1 Antenatal Neonatal Worldwide AND has_cases/families_value : 6.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100071 Mosaic trisomy 3 ORPHA:100071 ICD-10:Q92.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Thoracic outlet syndrome https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100072 OBSOLETE: True vascular thoracic outlet syndrome ORPHA:100072 NTOS Neurogenic TOS Neurogenic cervical rib syndrome Neurogenic costoclavicular syndrome Neurogenic thoracic outlet compression syndrome Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS. Orphanet ICD-10:G54.0 UMLS:C0751549 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100073 Neurogenic thoracic outlet syndrome Clinical subtype ORPHA:100073 ICD-10:G54.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C0751549 E (Exact mapping: the two concepts are equivalent) GNET Gastric NET Gastric neuroendocrine tumor NET of stomach A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported. Orphanet ICD-10:C16.9 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075 Neuroendocrine tumor of stomach ORPHA:100075 ICD-10:C16.9 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076 Duodenal neuroendocrine tumor Category ORPHA:100076 Jejunal neuroendocrine neoplasm Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred. Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077 Jejunal neuroendocrine tumor Category ORPHA:100077 Ileal neuroendocrine neoplasm Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred. Orphanet ICD-10:C17.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078 Ileal neuroendocrine tumor ORPHA:100078 ICD-10:C17.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Appendiceal NEN Appendiceal neuroendocrine neoplasm NEN of appendix A rare sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC). Orphanet ICD-10:C18.1 ICD-10:D37.3 ICD-11:2B81.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079 Neuroendocrine neoplasm of appendix ORPHA:100079 ICD-10:C18.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:D37.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:2B81.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). Colonic NET NET of the colon Neuroendocrine neoplasm of the colon A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities). Orphanet ICD-10:C18.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080 Neuroendocrine tumor of the colon ORPHA:100080 ICD-10:C18.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). NET of the rectum Rectal NET Rectal neuroendocrine tumor Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility. Orphanet ICD-10:C20 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081 Neuroendocrine tumor of the rectum ORPHA:100081 ICD-10:C20 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). NET of anal canal A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise). Orphanet ICD-10:C21.1 ICD-11:2C00.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082 Neuroendocrine tumor of anal canal ORPHA:100082 ICD-10:C21.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:2C00.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis. Orphanet ICD-10:C32.1 ICD-10:D14.1 ICD-11:2F00.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100083 Laryngeal neuroendocrine tumor ORPHA:100083 ICD-10:C32.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:D14.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:2F00.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis. Orphanet ICD-10:C30.1 ICD-11:2F00.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100084 Middle ear neuroendocrine tumor ORPHA:100084 ICD-10:C30.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:2F00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. Orphanet ICD-10:C22.7 Not applicable Adult Worldwide AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085 Primary hepatic neuroendocrine carcinoma ORPHA:100085 ICD-10:C22.7 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated. Orphanet ICD-10:C23 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100086 Gallbladder neuroendocrine tumor ORPHA:100086 ICD-10:C23 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C0040136 Europe AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 5.35 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 5.7 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 3.2 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100087 Thyroid tumor Category ORPHA:100087 UMLS:C0040136 E (Exact mapping: the two concepts are equivalent) MedDRA:10007476 UMLS:C0549473 Adult Austria AND has_annual_incidence_average_value : 7.679 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 3.74 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 2.921 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 8.329 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 6.382 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 4.803 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 3.65 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 61.7 AND has_lifetime_prevalence_range : 6-9 / 10 000 Finland AND has_annual_incidence_average_value : 6.375 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 5.526 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 2.45 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 12.86 AND has_annual_incidence_range : 1-5 / 10 000 Latvia AND has_annual_incidence_average_value : 4.563 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 7.905 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 6.344 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 2.373 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 4.472 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 4.488 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 8.628 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 3.991 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 5.649 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 5.162 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 6.39 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 2.733 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 12.2 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 3.1 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 12.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100088 Thyroid carcinoma Category ORPHA:100088 MedDRA:10007476 E (Exact mapping: the two concepts are equivalent) UMLS:C0549473 E (Exact mapping: the two concepts are equivalent) UMLS:C0030521 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100090 Rare parathyroid tumor Category ORPHA:100090 UMLS:C0030521 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100091 Adrenal/paraganglial tumor Category ORPHA:100091 GEP-NEN https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100092 Gastroenteropancreatic neuroendocrine neoplasm Category ORPHA:100092 Malignant carcinoid syndrome A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves. Orphanet ICD-10:E34.0 ICD-11:5B10 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100093 Carcinoid syndrome ORPHA:100093 ICD-10:E34.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:5B10 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D44.8 ICD-11:2F7A.0 UMLS:C0027662 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100094 Multiple polyglandular tumor Category ORPHA:100094 ICD-10:D44.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:2F7A.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). UMLS:C0027662 E (Exact mapping: the two concepts are equivalent) Albright hereditary osteodystrophy type 3 Albright hereditary osteodystrophy-like syndrome Brachydactyly-intellectual disability syndrome Del(2)(q37) Deletion 2q37 Monosomy 2q37qter A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis. Orphanet ICD-10:Q93.5 MeSH:C538317 OMIM:600430 UMLS:C2931817 Autosomal dominant Not applicable Neonatal Worldwide AND has_cases/families_value : 115.0 (Case) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 2q37 microdeletion syndrome ORPHA:1001 ICD-10:Q93.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C538317 E (Exact mapping: the two concepts are equivalent) OMIM:600430 E (Exact mapping: the two concepts are equivalent) UMLS:C2931817 E (Exact mapping: the two concepts are equivalent) UMLS:C3714644 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100100 Thymic tumor Category ORPHA:100100 UMLS:C3714644 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100101 Neuroendocrine tumor with other location Category ORPHA:100101 Ciliary neuralgia Cluster migraine Erythromelalgia of the head Erythroprosopalgia of Bing Histamine cephalalgia Histamine headache Histaminic cephalalgia Horton headache Migrainous neuralgia Red migraine This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G44.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1002 NON RARE IN EUROPE: Cluster headache ORPHA:1002 ICD-10:G44.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q87.2 MeSH:C536622 OMIM:181250 UMLS:C1867021 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 Scalp defects-postaxial polydactyly syndrome ORPHA:1003 ICD-10:Q87.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536622 E (Exact mapping: the two concepts are equivalent) OMIM:181250 E (Exact mapping: the two concepts are equivalent) UMLS:C1867021 E (Exact mapping: the two concepts are equivalent) ACD-intellectual disability syndrome A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Orphanet ICD-10:Q87.8 MeSH:C537051 OMIM:203550 UMLS:C0795895 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537051 E (Exact mapping: the two concepts are equivalent) OMIM:203550 E (Exact mapping: the two concepts are equivalent) UMLS:C0795895 E (Exact mapping: the two concepts are equivalent) Ipp-Gelfand syndrome 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. Orphanet ICD-10:D80.8 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006 Alopecia antibody deficiency ORPHA:1006 ICD-10:D80.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:A54.9 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100642 NON RARE IN EUROPE: Gonorrhea ORPHA:100642 ICD-10:A54.9 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). Shokeir syndrome A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Orphanet ICD-10:Q87.8 MeSH:C537057 OMIM:104130 UMLS:C1863090 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 12.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome ORPHA:1008 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537057 E (Exact mapping: the two concepts are equivalent) OMIM:104130 E (Exact mapping: the two concepts are equivalent) UMLS:C1863090 E (Exact mapping: the two concepts are equivalent) ALAD porphyria Porphyria due to ALAD deficiency Porphyria due to delta-aminolevulinate dehydratase deficiency Porphyria of Doss Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations. Orphanet ICD-10:E80.2 OMIM:612740 Autosomal recessive Adolescent Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 Porphyria due to ALA dehydratase deficiency ORPHA:100924 ICD-10:E80.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:612740 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Rare ophthalmic disorder with cranial nerve involvement https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100932 OBSOLETE: Nuclear oculomotor paralysis ORPHA:100932 Intellectual disability associated with fragile site FRAXE A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported. Orphanet OMIM:309548 X-linked recessive Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973 FRAXE intellectual disability ORPHA:100973 OMIM:309548 E (Exact mapping: the two concepts are equivalent) FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Orphanet Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974 FRAXF syndrome ORPHA:100974 BSI Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body. Orphanet ICD-10:Q80.2 OMIM:242300 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 Bathing suit ichthyosis ORPHA:100976 ICD-10:Q80.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:242300 NTBT (ORPHA code's Narrower Term maps to a Broader Term) Benallegue-Lacete syndrome A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.5 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome ORPHA:100978 ICD-10:Q87.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Autosomal dominant complex HSP Autosomal dominant complex SPG Autosomal dominant complicated HSP Autosomal dominant complicated SPG Autosomal dominant complicated spastic paraplegia ICD-10:G11.4 Autosomal dominant Europe AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100979 Autosomal dominant complex spastic paraplegia Clinical group ORPHA:100979 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Autosomal dominant pure HSP Autosomal dominant pure SPG Autosomal dominant uncomplicated HSP Autosomal dominant uncomplicated SPG Autosomal dominant uncomplicated spastic paraplegia ICD-10:G11.4 Autosomal dominant Europe AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100980 Autosomal dominant pure spastic paraplegia Clinical group ORPHA:100980 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Autosomal recessive complex HSP Autosomal recessive complex SPG Autosomal recessive complicated HSP Autosomal recessive complicated SPG Autosomal recessive complicated spastic paraplegia ICD-10:G11.4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100981 Autosomal recessive complex spastic paraplegia Clinical group ORPHA:100981 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Autosomal recessive pure HSP Autosomal recessive pure SPG Autosomal recessive uncomplicated HSP Autosomal recessive uncomplicated SPG Autosomal recessive uncomplicated spastic paraplegia ICD-10:G11.4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100982 Autosomal recessive pure spastic paraplegia Clinical group ORPHA:100982 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Strümpell disease A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with <i>pes cavus</i>, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures. Orphanet ICD-10:G11.4 MeSH:C536864 OMIM:182600 UMLS:C2931355 Autosomal dominant Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984 Autosomal dominant spastic paraplegia type 3 ORPHA:100984 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536864 E (Exact mapping: the two concepts are equivalent) OMIM:182600 E (Exact mapping: the two concepts are equivalent) UMLS:C2931355 E (Exact mapping: the two concepts are equivalent) SPG4 A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Orphanet ICD-10:G11.4 MeSH:C536865 OMIM:182601 UMLS:C1866855 Autosomal dominant Adolescent Adult Childhood Infancy Portugal AND has_point_prevalence_average_value : 0.91 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985 Autosomal dominant spastic paraplegia type 4 ORPHA:100985 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536865 E (Exact mapping: the two concepts are equivalent) OMIM:182601 E (Exact mapping: the two concepts are equivalent) UMLS:C1866855 E (Exact mapping: the two concepts are equivalent) SPG5A Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. Orphanet ICD-10:G11.4 MeSH:C536871 OMIM:270800 UMLS:C1849115 UMLS:C2931356 Autosomal recessive Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986 Autosomal recessive spastic paraplegia type 5A ORPHA:100986 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536871 E (Exact mapping: the two concepts are equivalent) OMIM:270800 E (Exact mapping: the two concepts are equivalent) UMLS:C1849115 E (Exact mapping: the two concepts are equivalent) UMLS:C2931356 E (Exact mapping: the two concepts are equivalent) SPG6 A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and <i>pes cavus</i>. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Orphanet ICD-10:G11.4 MeSH:C536866 OMIM:600363 UMLS:C1838192 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988 Autosomal dominant spastic paraplegia type 6 ORPHA:100988 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536866 E (Exact mapping: the two concepts are equivalent) OMIM:600363 E (Exact mapping: the two concepts are equivalent) UMLS:C1838192 E (Exact mapping: the two concepts are equivalent) SPG8 A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. Orphanet ICD-10:G11.4 MeSH:C536867 OMIM:603563 UMLS:C1863704 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989 Autosomal dominant spastic paraplegia type 8 ORPHA:100989 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536867 E (Exact mapping: the two concepts are equivalent) OMIM:603563 E (Exact mapping: the two concepts are equivalent) UMLS:C1863704 E (Exact mapping: the two concepts are equivalent) SPG9 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal dominant complex spastic paraplegia https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100990 OBSOLETE: Autosomal dominant spastic paraplegia type 9 ORPHA:100990 SPG10 A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. Orphanet ICD-10:G11.4 MeSH:C537482 OMIM:604187 UMLS:C1858712 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991 Autosomal dominant spastic paraplegia type 10 ORPHA:100991 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537482 E (Exact mapping: the two concepts are equivalent) OMIM:604187 E (Exact mapping: the two concepts are equivalent) UMLS:C1858712 E (Exact mapping: the two concepts are equivalent) SPG12 A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. Orphanet ICD-10:G11.4 MeSH:C537484 OMIM:604805 UMLS:C1858106 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 27.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993 Autosomal dominant spastic paraplegia type 12 ORPHA:100993 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537484 E (Exact mapping: the two concepts are equivalent) OMIM:604805 E (Exact mapping: the two concepts are equivalent) UMLS:C1858106 E (Exact mapping: the two concepts are equivalent) SPG13 A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense. Orphanet ICD-10:G11.4 MeSH:C537485 OMIM:605280 UMLS:C1854467 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994 Autosomal dominant spastic paraplegia type 13 ORPHA:100994 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537485 E (Exact mapping: the two concepts are equivalent) OMIM:605280 E (Exact mapping: the two concepts are equivalent) UMLS:C1854467 E (Exact mapping: the two concepts are equivalent) SPG14 Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. Orphanet ICD-10:G11.4 MeSH:C537486 OMIM:605229 UMLS:C1854568 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995 Autosomal recessive spastic paraplegia type 14 ORPHA:100995 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537486 E (Exact mapping: the two concepts are equivalent) OMIM:605229 E (Exact mapping: the two concepts are equivalent) UMLS:C1854568 E (Exact mapping: the two concepts are equivalent) Hereditary spastic paraparesis type 15 Kjellin syndrome SPG15 Spastic paraplegia-retinal degeneration syndrome Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. Orphanet ICD-10:G11.4 MeSH:C536642 OMIM:270700 UMLS:C1849128 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 Autosomal recessive spastic paraplegia type 15 ORPHA:100996 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536642 E (Exact mapping: the two concepts are equivalent) OMIM:270700 E (Exact mapping: the two concepts are equivalent) UMLS:C1849128 E (Exact mapping: the two concepts are equivalent) SPG16 A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. Orphanet ICD-10:G11.4 MeSH:C536643 OMIM:300266 UMLS:C1846046 X-linked recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997 X-linked spastic paraplegia type 16 ORPHA:100997 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536643 E (Exact mapping: the two concepts are equivalent) OMIM:300266 E (Exact mapping: the two concepts are equivalent) UMLS:C1846046 E (Exact mapping: the two concepts are equivalent) SPG17 Silver syndrome Spastic paraplegia-amyotrophy of hands and feet A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical. Orphanet ICD-10:G11.4 OMIM:270685 UMLS:C2931276 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 20.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 Autosomal dominant spastic paraplegia type 17 ORPHA:100998 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:270685 E (Exact mapping: the two concepts are equivalent) UMLS:C2931276 E (Exact mapping: the two concepts are equivalent) SPG19 A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. Orphanet ICD-10:G11.4 MeSH:C536856 OMIM:607152 UMLS:C1846685 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999 Autosomal dominant spastic paraplegia type 19 ORPHA:100999 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536856 E (Exact mapping: the two concepts are equivalent) OMIM:607152 E (Exact mapping: the two concepts are equivalent) UMLS:C1846685 E (Exact mapping: the two concepts are equivalent) DRPLA Dentatorubropallidoluysian atrophy Naito-Oyanagi disease A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. Orphanet ICD-10:G11.8 OMIM:125370 UMLS:C0751781 Autosomal dominant All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.48 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.71 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 Dentatorubral pallidoluysian atrophy ORPHA:101 ICD-10:G11.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:125370 E (Exact mapping: the two concepts are equivalent) UMLS:C0751781 E (Exact mapping: the two concepts are equivalent) Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia PPK-CA, Stevanovic type Palmoplantar keratoderma and congenital alopecia, Stevanovic type A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Orphanet ICD-10:Q82.8 OMIM:104100 UMLS:C1863093 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia ORPHA:1010 ICD-10:Q82.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:104100 E (Exact mapping: the two concepts are equivalent) UMLS:C1863093 E (Exact mapping: the two concepts are equivalent) Childhood-onset spastic paraparesis-distal muscle wasting syndrome SPG20 Troyer syndrome Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the <i>SPG20</i> gene (13q13.1), which encodes the protein spartin. Orphanet ICD-10:G11.4 OMIM:275900 UMLS:C0393559 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 36.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 Autosomal recessive spastic paraplegia type 20 ORPHA:101000 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:275900 E (Exact mapping: the two concepts are equivalent) UMLS:C0393559 E (Exact mapping: the two concepts are equivalent) Mast syndrome SPG21 Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. Orphanet ICD-10:G11.4 OMIM:248900 UMLS:C1855346 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 35.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001 Autosomal recessive spastic paraplegia type 21 ORPHA:101001 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:248900 E (Exact mapping: the two concepts are equivalent) UMLS:C1855346 E (Exact mapping: the two concepts are equivalent) Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. Orphanet ICD-10:G11.4 OMIM:270750 UMLS:C0796019 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003 Autosomal recessive spastic paraplegia type 23 ORPHA:101003 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:270750 E (Exact mapping: the two concepts are equivalent) UMLS:C0796019 E (Exact mapping: the two concepts are equivalent) SPG24 A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. Orphanet ICD-10:G11.4 OMIM:607584 UMLS:C1843569 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004 Autosomal recessive spastic paraplegia type 24 ORPHA:101004 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:607584 E (Exact mapping: the two concepts are equivalent) UMLS:C1843569 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spastic paraplegia-disc herniation syndrome SPG25 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. Orphanet ICD-10:G11.4 MeSH:C536861 OMIM:608220 UMLS:C2936860 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005 Autosomal recessive spastic paraplegia type 25 ORPHA:101005 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536861 E (Exact mapping: the two concepts are equivalent) OMIM:608220 E (Exact mapping: the two concepts are equivalent) UMLS:C2936860 E (Exact mapping: the two concepts are equivalent) GM2 synthase deficiency SPG26 Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the <i>B4GALNT1</i> gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. Orphanet ICD-10:G11.4 MeSH:C536862 OMIM:609195 UMLS:C1836632 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 10.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 Autosomal recessive spastic paraplegia type 26 ORPHA:101006 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536862 E (Exact mapping: the two concepts are equivalent) OMIM:609195 E (Exact mapping: the two concepts are equivalent) UMLS:C1836632 E (Exact mapping: the two concepts are equivalent) SPG27 Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. Orphanet ICD-10:G11.4 OMIM:609041 UMLS:C1836899 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007 Autosomal recessive spastic paraplegia type 27 ORPHA:101007 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:609041 E (Exact mapping: the two concepts are equivalent) UMLS:C1836899 E (Exact mapping: the two concepts are equivalent) SPG28 Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. Orphanet ICD-10:G11.4 OMIM:609340 UMLS:C1836295 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008 Autosomal recessive spastic paraplegia type 28 ORPHA:101008 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:609340 E (Exact mapping: the two concepts are equivalent) UMLS:C1836295 E (Exact mapping: the two concepts are equivalent) SPG29 A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. Orphanet ICD-10:G11.4 MeSH:C536863 OMIM:609727 UMLS:C1857855 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009 Autosomal dominant spastic paraplegia type 29 ORPHA:101009 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536863 E (Exact mapping: the two concepts are equivalent) OMIM:609727 E (Exact mapping: the two concepts are equivalent) UMLS:C1857855 E (Exact mapping: the two concepts are equivalent) SPG30 A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. Orphanet ICD-10:G11.4 OMIM:610357 UMLS:C1835896 Autosomal dominant Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 3.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 Autosomal spastic paraplegia type 30 ORPHA:101010 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:610357 E (Exact mapping: the two concepts are equivalent) UMLS:C1835896 E (Exact mapping: the two concepts are equivalent) SPG31 A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. Orphanet ICD-10:G11.4 OMIM:610250 UMLS:C1853247 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011 Autosomal dominant spastic paraplegia type 31 ORPHA:101011 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:610250 E (Exact mapping: the two concepts are equivalent) UMLS:C1853247 E (Exact mapping: the two concepts are equivalent) Romano-Ward long QT syndrome A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia). Orphanet ICD-10:I45.8 MeSH:D029597 MedDRA:10039211 OMIM:192500 OMIM:600919 OMIM:603830 OMIM:611818 OMIM:611819 OMIM:611820 OMIM:612955 OMIM:613485 OMIM:613688 OMIM:613693 OMIM:613695 OMIM:616247 OMIM:616249 UMLS:C0035828 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016 Romano-Ward syndrome ORPHA:101016 ICD-10:I45.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:D029597 E (Exact mapping: the two concepts are equivalent) MedDRA:10039211 E (Exact mapping: the two concepts are equivalent) OMIM:192500 E (Exact mapping: the two concepts are equivalent) OMIM:600919 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:603830 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:611818 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:611819 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:611820 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:612955 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:613485 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:613688 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:613693 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:613695 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:616247 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:616249 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0035828 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sitosterolemia ICD-10:D69.1 OMIM:210250 UMLS:C0272281 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101022 Mediterranean macrothrombocytopenia ORPHA:101022 ICD-10:D69.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:210250 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C0272281 E (Exact mapping: the two concepts are equivalent) ICD-10:Q35.1 ICD-11:LA42.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101023 Cleft hard palate ORPHA:101023 ICD-10:Q35.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:LA42.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). TALDO deficiency Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Orphanet ICD-10:E74.8 OMIM:606003 UMLS:C1291329 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028 Transaldolase deficiency ORPHA:101028 ICD-10:E74.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:606003 E (Exact mapping: the two concepts are equivalent) UMLS:C1291329 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 Sub-cortical nodular heterotopia Clinical subtype ORPHA:101029 ICD-10:Q04.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:Q04.8 MedDRA:10071150 UMLS:C3160906 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 Subependymal nodular heterotopia Clinical subtype ORPHA:101030 ICD-10:Q04.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MedDRA:10071150 E (Exact mapping: the two concepts are equivalent) UMLS:C3160906 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Peters anomaly https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101033 OBSOLETE: Peters anomaly-cataract syndrome ORPHA:101033 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Cleft lip/palate-ectodermal dysplasia syndrome https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101036 OBSOLETE: Zlotogura-Martinez syndrome ORPHA:101036 EFMR Juberg-Hellman syndrome Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. Orphanet OMIM:300088 UMLS:C1848137 Unknown Worldwide AND has_cases/families_value : 5.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039 Female restricted epilepsy with intellectual disability ORPHA:101039 OMIM:300088 E (Exact mapping: the two concepts are equivalent) UMLS:C1848137 E (Exact mapping: the two concepts are equivalent) Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. Orphanet ICD-10:D68.2 OMIM:202400 UMLS:C2584774 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041 Familial hypofibrinogenemia Clinical subtype ORPHA:101041 ICD-10:D68.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:202400 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C2584774 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Double outlet right ventricle with subpulmonary ventricular septal defect https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101042 OBSOLETE: Taussig-Bing syndrome ORPHA:101042 ICD-10:Q23.0 UMLS:C0344993 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 Congenital aortic valve dysplasia Clinical subtype ORPHA:101043 ICD-10:Q23.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C0344993 E (Exact mapping: the two concepts are equivalent) ADEAF ADLTE ADPEAF Autosomal dominant lateral temporal lobe epilepsy Partial epilepsy with auditory aura Partial epilepsy with auditory features A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. Orphanet ICD-10:G40.0 OMIM:600512 OMIM:616436 OMIM:616461 UMLS:C1838062 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046 Autosomal dominant epilepsy with auditory features ORPHA:101046 ICD-10:G40.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:600512 E (Exact mapping: the two concepts are equivalent) OMIM:616436 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:616461 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C1838062 E (Exact mapping: the two concepts are equivalent) FHH type 2 ICD-10:E83.5 MeSH:C537146 OMIM:145981 UMLS:C1840347 UMLS:C2931427 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 Familial hypocalciuric hypercalcemia type 2 Etiological subtype ORPHA:101049 ICD-10:E83.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537146 E (Exact mapping: the two concepts are equivalent) OMIM:145981 E (Exact mapping: the two concepts are equivalent) UMLS:C1840347 E (Exact mapping: the two concepts are equivalent) UMLS:C2931427 E (Exact mapping: the two concepts are equivalent) FHH type 3 ICD-10:E83.5 MeSH:C537147 OMIM:600740 UMLS:C1833372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 Familial hypocalciuric hypercalcemia type 3 Etiological subtype ORPHA:101050 ICD-10:E83.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537147 E (Exact mapping: the two concepts are equivalent) OMIM:600740 E (Exact mapping: the two concepts are equivalent) UMLS:C1833372 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Microlissencephaly https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101052 OBSOLETE: Microlissencephaly type B ORPHA:101052 Complete situs inversus Complete situs inversus viscerum Situs inversus A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated. Orphanet ICD-10:Q89.3 ICD-11:LA82 UMLS:C0037221 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063 Situs inversus totalis ORPHA:101063 ICD-10:Q89.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:LA82 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). UMLS:C0037221 E (Exact mapping: the two concepts are equivalent) CSCD Congenital hereditary stromal dystrophy Witschel dystrophy Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. Orphanet ICD-10:H18.5 OMIM:610048 UMLS:C1864738 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 6.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068 Congenital stromal corneal dystrophy ORPHA:101068 ICD-10:H18.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:610048 E (Exact mapping: the two concepts are equivalent) UMLS:C1864738 E (Exact mapping: the two concepts are equivalent) Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. Orphanet ICD-10:Q04.3 OMIM:606854 UMLS:C1847352 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 Bilateral frontoparietal polymicrogyria Clinical subtype ORPHA:101070 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:606854 E (Exact mapping: the two concepts are equivalent) UMLS:C1847352 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 Unilateral hemispheric polymicrogyria Clinical subtype ORPHA:101071 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). CMT1X CMTX1 X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. Orphanet ICD-10:G60.0 MeSH:C535919 OMIM:302800 UMLS:C0393808 X-linked dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 X-linked Charcot-Marie-Tooth disease type 1 ORPHA:101075 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C535919 E (Exact mapping: the two concepts are equivalent) OMIM:302800 E (Exact mapping: the two concepts are equivalent) UMLS:C0393808 E (Exact mapping: the two concepts are equivalent) CMTX2 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. Orphanet ICD-10:G60.0 OMIM:302801 UMLS:C1844873 X-linked recessive Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 X-linked Charcot-Marie-Tooth disease type 2 ORPHA:101076 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:302801 E (Exact mapping: the two concepts are equivalent) UMLS:C1844873 E (Exact mapping: the two concepts are equivalent) CMT3X CMTX3 X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. Orphanet ICD-10:G60.0 OMIM:302802 UMLS:C1844865 X-linked recessive Adolescent Childhood Worldwide AND has_cases/families_value : 4.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 X-linked Charcot-Marie-Tooth disease type 3 ORPHA:101077 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:302802 E (Exact mapping: the two concepts are equivalent) UMLS:C1844865 E (Exact mapping: the two concepts are equivalent) CMT4X CMTX4 Cowchock syndrome X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. Orphanet ICD-10:G60.0 OMIM:310490 UMLS:C0795910 X-linked recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 X-linked Charcot-Marie-Tooth disease type 4 ORPHA:101078 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:310490 E (Exact mapping: the two concepts are equivalent) UMLS:C0795910 E (Exact mapping: the two concepts are equivalent) CMT1A Microduplication 17p12 ICD-10:G60.0 OMIM:118220 UMLS:C0270911 Autosomal dominant Childhood Norway AND has_point_prevalence_average_value : 82.37 AND has_point_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_average_value : 15.2 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081 Charcot-Marie-Tooth disease type 1A ORPHA:101081 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:118220 E (Exact mapping: the two concepts are equivalent) UMLS:C0270911 E (Exact mapping: the two concepts are equivalent) CMT1B Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the <i>MPZ</i> gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases. Orphanet ICD-10:G60.0 OMIM:118200 UMLS:C0270912 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082 Charcot-Marie-Tooth disease type 1B ORPHA:101082 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:118200 E (Exact mapping: the two concepts are equivalent) UMLS:C0270912 E (Exact mapping: the two concepts are equivalent) CMT1C A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes. Orphanet ICD-10:G60.0 MeSH:C537984 OMIM:601098 UMLS:C0270913 Autosomal dominant Adolescent Adult Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083 Charcot-Marie-Tooth disease type 1C ORPHA:101083 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537984 E (Exact mapping: the two concepts are equivalent) OMIM:601098 E (Exact mapping: the two concepts are equivalent) UMLS:C0270913 E (Exact mapping: the two concepts are equivalent) CMT1D Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the <i>EGR2</i> gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. Orphanet ICD-10:G60.0 MeSH:C537985 OMIM:607678 UMLS:C1843247 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101084 Charcot-Marie-Tooth disease type 1D ORPHA:101084 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537985 E (Exact mapping: the two concepts are equivalent) OMIM:607678 E (Exact mapping: the two concepts are equivalent) UMLS:C1843247 E (Exact mapping: the two concepts are equivalent) CMT1F Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the <i>NEFL</i> gene (8p21.2). Orphanet ICD-10:G60.0 OMIM:607734 UMLS:C1843164 Autosomal dominant Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085 Charcot-Marie-Tooth disease type 1F ORPHA:101085 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:607734 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C1843164 E (Exact mapping: the two concepts are equivalent) HIGM1 Hyper-IgM syndrome due to CD40 ligand deficiency Hyper-IgM syndrome due to CD40L deficiency Hyper-IgM syndrome type 1 XHIGM ICD-10:D80.5 OMIM:308230 UMLS:C0398689 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 X-linked hyper-IgM syndrome Clinical subtype ORPHA:101088 ICD-10:D80.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:308230 E (Exact mapping: the two concepts are equivalent) UMLS:C0398689 E (Exact mapping: the two concepts are equivalent) AID deficiency Activation-induced cytidine deaminase deficiency HIGM2 ICD-10:D80.5 OMIM:605258 UMLS:C1720956 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089 Hyper-IgM syndrome type 2 Clinical subtype ORPHA:101089 ICD-10:D80.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:605258 E (Exact mapping: the two concepts are equivalent) UMLS:C1720956 E (Exact mapping: the two concepts are equivalent) HIGM3 Hyper-IgM syndrome due to CD40 deficiency ICD-10:D80.5 OMIM:606843 UMLS:C1720957 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 Hyper-IgM syndrome type 3 Clinical subtype ORPHA:101090 ICD-10:D80.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:606843 E (Exact mapping: the two concepts are equivalent) UMLS:C1720957 E (Exact mapping: the two concepts are equivalent) HIGM4 ICD-10:D80.5 OMIM:608184 UMLS:C1842413 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101091 Hyper-IgM syndrome type 4 Clinical subtype ORPHA:101091 ICD-10:D80.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:608184 E (Exact mapping: the two concepts are equivalent) UMLS:C1842413 E (Exact mapping: the two concepts are equivalent) HIGM5 Hyper-IgM syndrome due to UNG deficiency Hyper-IgM syndrome due to uracil N-glycosylase ICD-10:D80.5 OMIM:608106 UMLS:C1720958 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092 Hyper-IgM syndrome type 5 Clinical subtype ORPHA:101092 ICD-10:D80.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:608106 E (Exact mapping: the two concepts are equivalent) UMLS:C1720958 E (Exact mapping: the two concepts are equivalent) ICD-10:D46.7 MedDRA:10054329 UMLS:C0002893 UMLS:C0553669 Not applicable All ages Argentina AND has_annual_incidence_average_value : 0.119 AND has_annual_incidence_range : 1-9 / 1 000 000 Brazil AND has_annual_incidence_average_value : 0.217 AND has_annual_incidence_range : 1-9 / 1 000 000 China AND has_annual_incidence_average_value : 0.535 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Malaysia AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000 Mexico AND has_annual_incidence_average_value : 0.0063 AND has_annual_incidence_range : <1 / 1 000 000 Pakistan AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.234 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.235 AND has_annual_incidence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_annual_incidence_average_value : 0.567 AND has_annual_incidence_range : 1-9 / 1 000 000 Tanzania, United Republic of AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Thailand AND has_annual_incidence_average_value : 0.425 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.3312 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101096 Aregenerative anemia ORPHA:101096 ICD-10:D46.7 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MedDRA:10054329 E (Exact mapping: the two concepts are equivalent) UMLS:C0002893 E (Exact mapping: the two concepts are equivalent) UMLS:C0553669 E (Exact mapping: the two concepts are equivalent) ARCMT2K Autosomal recessive axonal CMT4C4 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. Orphanet ICD-10:G60.0 OMIM:607706 OMIM:607831 UMLS:C1842983 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ORPHA:101097 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:607706 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:607831 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C1842983 E (Exact mapping: the two concepts are equivalent) Devriendt-Legius-Fryns syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Woodhouse-Sakati syndrome MeSH:C537053 UMLS:C2931406 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1011 Alopecia-hypogonadism-extrapyramidal syndrome ORPHA:1011 MeSH:C537053 E (Exact mapping: the two concepts are equivalent) UMLS:C2931406 E (Exact mapping: the two concepts are equivalent) AR-CMT2B2 Autosomal recessive axonal CMT4C3 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Orphanet ICD-10:G60.0 MeSH:C537991 OMIM:605589 UMLS:C1854150 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101 Charcot-Marie-Tooth disease type 2B2 ORPHA:101101 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537991 E (Exact mapping: the two concepts are equivalent) OMIM:605589 E (Exact mapping: the two concepts are equivalent) UMLS:C1854150 E (Exact mapping: the two concepts are equivalent) AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT2H Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. Orphanet ICD-10:G60.0 MeSH:C535415 OMIM:607731 UMLS:C1843173 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 13.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102 Charcot-Marie-Tooth disease type 2H ORPHA:101102 ICD-10:G60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C535415 E (Exact mapping: the two concepts are equivalent) OMIM:607731 E (Exact mapping: the two concepts are equivalent) UMLS:C1843173 E (Exact mapping: the two concepts are equivalent) ICD-10:Q07.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104 Marin-Amat syndrome Clinical subtype ORPHA:101104 ICD-10:Q07.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-functioning paraganglioma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101106 OBSOLETE: Non-secreting chemodectoma ORPHA:101106 SCA22 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spinocerebellar ataxia type 19/22 MeSH:C542540 OMIM:607346 UMLS:C2746067 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101107 Spinocerebellar ataxia type 22 ORPHA:101107 MeSH:C542540 E (Exact mapping: the two concepts are equivalent) OMIM:607346 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C2746067 E (Exact mapping: the two concepts are equivalent) SCA23 Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. Orphanet ICD-10:G11.2 MeSH:C537201 OMIM:610245 UMLS:C1853250 Autosomal dominant Adult Worldwide AND has_cases/families_value : 4.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 Spinocerebellar ataxia type 23 ORPHA:101108 ICD-10:G11.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537201 E (Exact mapping: the two concepts are equivalent) OMIM:610245 E (Exact mapping: the two concepts are equivalent) UMLS:C1853250 E (Exact mapping: the two concepts are equivalent) SCA28 Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. Orphanet ICD-10:G11.1 MeSH:C537205 OMIM:610246 UMLS:C1853249 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 Spinocerebellar ataxia type 28 ORPHA:101109 ICD-10:G11.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537205 E (Exact mapping: the two concepts are equivalent) OMIM:610246 E (Exact mapping: the two concepts are equivalent) UMLS:C1853249 E (Exact mapping: the two concepts are equivalent) SCA20 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation. Orphanet ICD-10:G11.2 MeSH:C537199 OMIM:608687 UMLS:C1837541 Autosomal dominant Adult Worldwide AND has_cases/families_value : 20.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 Spinocerebellar ataxia type 20 ORPHA:101110 ICD-10:G11.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537199 E (Exact mapping: the two concepts are equivalent) OMIM:608687 E (Exact mapping: the two concepts are equivalent) UMLS:C1837541 E (Exact mapping: the two concepts are equivalent) SCA25 Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy. Orphanet ICD-10:G11.8 MeSH:C537202 OMIM:608703 UMLS:C1837518 Autosomal dominant All ages Worldwide AND has_cases/families_value : 10.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 Spinocerebellar ataxia type 25 ORPHA:101111 ICD-10:G11.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537202 E (Exact mapping: the two concepts are equivalent) OMIM:608703 E (Exact mapping: the two concepts are equivalent) UMLS:C1837518 E (Exact mapping: the two concepts are equivalent) SCA26 A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. Orphanet ICD-10:G11.2 MeSH:C537203 OMIM:609306 UMLS:C1836395 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 Spinocerebellar ataxia type 26 ORPHA:101112 ICD-10:G11.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537203 E (Exact mapping: the two concepts are equivalent) OMIM:609306 E (Exact mapping: the two concepts are equivalent) UMLS:C1836395 E (Exact mapping: the two concepts are equivalent) Autosomal recessive Segawa syndrome DYT5b Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. Orphanet ICD-10:G24.1 OMIM:605407 UMLS:C2673535 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 50.0 (Case) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 Autosomal recessive dopa-responsive dystonia ORPHA:101150 ICD-10:G24.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:605407 E (Exact mapping: the two concepts are equivalent) UMLS:C2673535 E (Exact mapping: the two concepts are equivalent) DYT14 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant dopa-responsive dystonia https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101151 Dystonia 14 ORPHA:101151 APV/ADA, Fallot type Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome PVA/ADA, Fallot type Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Orphanet ICD-10:Q22.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome ORPHA:101206 ICD-10:Q22.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). PCT Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis. Orphanet ICD-10:E80.1 ICD-11:5C58.10 MeSH:D017119 MedDRA:10036183 OMIM:176090 OMIM:176100 UMLS:C0162566 Autosomal dominant Multigenic/multifactorial Adult Europe AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 Porphyria cutanea tarda ORPHA:101330 ICD-10:E80.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:5C58.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MeSH:D017119 E (Exact mapping: the two concepts are equivalent) MedDRA:10036183 E (Exact mapping: the two concepts are equivalent) OMIM:176090 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:176100 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0162566 E (Exact mapping: the two concepts are equivalent) A rare bacterial infectious disease caused by the tick-borne bacterium <i>Rickettsia africae</i>, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent. Orphanet ICD-10:A77.1 ICD-11:1C31.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101334 African tick typhus ORPHA:101334 ICD-10:A77.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:1C31.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Boutonneuse fever https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101335 OBSOLETE: Indian tick typhus ORPHA:101335 Kenya tick-bite fever This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Boutonneuse fever https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101336 OBSOLETE: Kenya tick typhus ORPHA:101336 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Boutonneuse fever https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101337 OBSOLETE: Marseilles fever ORPHA:101337 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Boutonneuse fever https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101338 OBSOLETE: Mediterranean spotted fever ORPHA:101338 Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. Orphanet ICD-10:Q89.0 ICD-11:LB22.0 OMIM:271400 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 Familial isolated congenital asplenia ORPHA:101351 ICD-10:Q89.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:LB22.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Specific code (The ORPHA code has its own code in the ICD). OMIM:271400 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndrome with a central nervous system malformation as a major feature https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101356 OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome ORPHA:101356 Devriendt-Vandenberghe-Fryns syndrome A rare multiple congential anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Orphanet ICD-10:Q87.8 OMIM:601217 UMLS:C1832593 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:601217 E (Exact mapping: the two concepts are equivalent) UMLS:C1832593 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101433 Rare urogenital disease Category Head of classification ORPHA:101433 Rare genetic ophthalmologic disease https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101435 Rare genetic eye disease Category ORPHA:101435 Rare NSID Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. Orphanet ICD-10:F70 ICD-10:F71 ICD-10:F72 ICD-10:F73 Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Childhood Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685 Rare non-syndromic intellectual disability ORPHA:101685 ICD-10:F70 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:F71 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:F72 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:F73 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). Xq22.3 microdeletion syndrome A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. Orphanet ICD-10:Q87.8 OMIM:150700 OMIM:308940 X-linked dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 X-linked Alport syndrome-diffuse leiomyomatosis Clinical subtype ORPHA:1018 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:150700 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:308940 E (Exact mapping: the two concepts are equivalent) Alport syndrome with macrothrombocytopenia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease ICD-10:D69.4 MeSH:C535507 OMIM:155100 UMLS:C0398641 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1019 Epstein syndrome ORPHA:1019 ICD-10:D69.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C535507 E (Exact mapping: the two concepts are equivalent) OMIM:155100 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C0398641 E (Exact mapping: the two concepts are equivalent) A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association. Orphanet ICD-10:Q23.8 ICD-11:LA87.13 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101932 Anomaly of the mitral subvalvular apparatus ORPHA:101932 ICD-10:Q23.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:LA87.13 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101934 Genetic cardiac rhythm disease Category ORPHA:101934 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101936 Rare gastroesophageal disease Category ORPHA:101936 UMLS:C0030286 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101937 Rare pancreatic disease Category ORPHA:101937 UMLS:C0030286 E (Exact mapping: the two concepts are equivalent) UMLS:C0400923 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101938 Rare vascular liver disease Category ORPHA:101938 UMLS:C0400923 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101939 Rare parenchymal liver disease Category ORPHA:101939 MedDRA:10019689 UMLS:C0851734 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101940 Rare metabolic liver disease Category ORPHA:101940 MedDRA:10019689 E (Exact mapping: the two concepts are equivalent) UMLS:C0851734 E (Exact mapping: the two concepts are equivalent) UMLS:C0005424 UMLS:C0750952 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101941 Rare biliary tract disease Category ORPHA:101941 UMLS:C0005424 E (Exact mapping: the two concepts are equivalent) UMLS:C0750952 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101943 Rare hepatic and biliary tract tumor Category ORPHA:101943 UMLS:C0024115 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101944 Rare pulmonary disease Category ORPHA:101944 UMLS:C0024115 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101945 Rare bronchopulmonary tumor Category ORPHA:101945 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Rare ophthalmic disorder https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101949 OBSOLETE: Rare acquired eye disease ORPHA:101949 UMLS:C0015414 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101950 Rare eye tumor Category ORPHA:101950 UMLS:C0015414 E (Exact mapping: the two concepts are equivalent) UMLS:C0011849 UMLS:C0011860 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101952 Rare diabetes mellitus Category ORPHA:101952 UMLS:C0011849 E (Exact mapping: the two concepts are equivalent) UMLS:C0011860 E (Exact mapping: the two concepts are equivalent) UMLS:C0242339 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101953 Rare dyslipidemia Category ORPHA:101953 UMLS:C0242339 E (Exact mapping: the two concepts are equivalent) UMLS:C0001621 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101954 Rare adrenal disease Category ORPHA:101954 UMLS:C0001621 E (Exact mapping: the two concepts are equivalent) UMLS:C0040128 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101955 Rare thyroid disease Category ORPHA:101955 UMLS:C0040128 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101956 Polyendocrinopathy Category ORPHA:101956 ICD-10:E23.0 ICD-11:5A61 UMLS:C0020635 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101957 Pituitary deficiency Category ORPHA:101957 ICD-10:E23.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:5A61 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). UMLS:C0020635 E (Exact mapping: the two concepts are equivalent) MedDRA:10052381 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101958 Primary adrenal insufficiency Category ORPHA:101958 MedDRA:10052381 E (Exact mapping: the two concepts are equivalent) CPAI Chronic adrenocorticoid insufficiency Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. Orphanet UMLS:C0001403 Multigenic/multifactorial All ages Europe AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101959 Chronic primary adrenal insufficiency Category ORPHA:101959 UMLS:C0001403 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101960 Genetic chronic primary adrenal insufficiency Category ORPHA:101960 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101963 Acquired chronic primary adrenal insufficiency Category ORPHA:101963 ICD-10:D81.0 ICD-10:D81.1 ICD-10:D81.2 ICD-10:D81.3 ICD-10:D81.4 ICD-10:D81.5 ICD-10:D81.6 ICD-10:D81.7 ICD-10:D81.8 ICD-10:D81.9 ICD-11:4A01.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101972 Combined T and B cell immunodeficiency Clinical group ORPHA:101972 ICD-10:D81.0 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D81.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D81.2 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D81.3 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D81.4 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D81.5 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D81.6 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D81.7 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D81.8 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D81.9 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:4A01.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.0 ICD-10:D80.1 ICD-10:D80.2 ICD-10:D80.3 ICD-10:D80.4 ICD-10:D80.5 ICD-10:D80.6 ICD-10:D80.7 ICD-10:D80.8 ICD-10:D80.9 ICD-11:4A01.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101977 Immunodeficiency predominantly affecting antibody production Category ORPHA:101977 ICD-10:D80.0 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.2 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.3 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.4 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.5 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.6 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.7 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.8 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:D80.9 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:4A01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Immunodeficiency predominantly affecting antibody production https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101978 OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells ORPHA:101978 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101980 OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells ORPHA:101980 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101982 OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells ORPHA:101982 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101985 Quantitative and/or qualitative congenital phagocyte defect Category ORPHA:101985 ICD-10:D70 ICD-11:4B00.00 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101987 Constitutional neutropenia Category ORPHA:101987 ICD-10:D70 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:4B00.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101988 Primary immunodeficiency due to a defect in innate immunity Category ORPHA:101988 ICD-10:D84.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101992 Immunodeficiency due to a complement cascade protein anomaly Category ORPHA:101992 ICD-10:D84.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MedDRA:10034533 UMLS:C0015974 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101995 Periodic fever syndrome Category ORPHA:101995 MedDRA:10034533 E (Exact mapping: the two concepts are equivalent) UMLS:C0015974 E (Exact mapping: the two concepts are equivalent) MedDRA:10064859 UMLS:C0398686 Australia AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.79 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 New Zealand AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 6.8 AND has_point_prevalence_range : 1-9 / 100 000 Oman AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_point_prevalence_average_value : 1.33 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.84 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101997 Primary immunodeficiency Category ORPHA:101997 MedDRA:10064859 E (Exact mapping: the two concepts are equivalent) UMLS:C0398686 E (Exact mapping: the two concepts are equivalent) ICD-10:G40.0 ICD-10:G40.1 ICD-10:G40.2 ICD-10:G40.3 ICD-10:G40.4 ICD-10:G40.5 ICD-10:G40.6 ICD-10:G40.7 ICD-10:G40.8 ICD-10:G40.9 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101998 Rare epilepsy Category ORPHA:101998 ICD-10:G40.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G40.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G40.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G40.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G40.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G40.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G40.6 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G40.7 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G40.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G40.9 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MSA Multisystem atrophy Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. Orphanet ICD-10:G23.2 ICD-10:G23.3 MeSH:D019578 MedDRA:10064060 OMIM:146500 UMLS:C0393571 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Faroe Islands AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 10.3 AND has_point_prevalence_range : 1-5 / 10 000 Russian Federation AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 1.8 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102 Multiple system atrophy ORPHA:102 ICD-10:G23.2 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G23.3 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:D019578 E (Exact mapping: the two concepts are equivalent) MedDRA:10064060 E (Exact mapping: the two concepts are equivalent) OMIM:146500 E (Exact mapping: the two concepts are equivalent) UMLS:C0393571 E (Exact mapping: the two concepts are equivalent) EOFAD Early-onset familial autosomal dominant Alzheimer disease Familial Alzheimer disease 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. Orphanet ICD-10:G30.0 OMIM:104300 OMIM:104310 OMIM:602096 OMIM:604154 OMIM:605055 OMIM:605526 OMIM:606187 OMIM:606889 OMIM:607116 OMIM:607822 OMIM:609636 OMIM:609790 OMIM:611073 OMIM:611152 OMIM:611154 UMLS:C0276496 Autosomal dominant Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 Early-onset autosomal dominant Alzheimer disease ORPHA:1020 ICD-10:G30.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:104300 NTBT (ORPHA code's Narrower Term maps to a Broader Term) OMIM:104310 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:602096 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:604154 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:605055 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:605526 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:606187 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:606889 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:607116 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:607822 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:609636 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:609790 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:611073 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:611152 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:611154 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0276496 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102000 Medullar disease Category ORPHA:102000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102002 Rare ataxia Category ORPHA:102002 UMLS:C0026650 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102003 Rare movement disorder Category ORPHA:102003 UMLS:C0026650 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102005 Brain inflammatory disease Category ORPHA:102005 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102006 Neurovascular malformation Category ORPHA:102006 Lissencephaly type 1 ICD-10:Q04.3 ICD-11:LD20.1 UMLS:C0431375 UMLS:C1843916 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 Classic lissencephaly Clinical group ORPHA:102009 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:LD20.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). UMLS:C0431375 E (Exact mapping: the two concepts are equivalent) UMLS:C1843916 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 Other syndrome with lissencephaly as a major feature Category ORPHA:102010 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:Q04.3 ICD-11:LD20.1 UMLS:C1969029 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 Lissencephaly type 3 Clinical group ORPHA:102011 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:LD20.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). UMLS:C1969029 E (Exact mapping: the two concepts are equivalent) Pure HSP Pure SPG Pure familial spastic paraplegia Uncomplicated HSP Uncomplicated SPG Uncomplicated familial spastic paraplegia Uncomplicated hereditary spastic paraplegia ICD-10:G11.4 UMLS:C0393555 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102012 Pure hereditary spastic paraplegia Clinical group ORPHA:102012 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C0393555 E (Exact mapping: the two concepts are equivalent) Complex HSP Complex SPG Complex familial spastic paraplegia Complicated HSP Complicated SPG Complicated familial spastic paraplegia Complicated hereditary spastic paraplegia ICD-10:G11.4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102013 Complex hereditary spastic paraplegia Clinical group ORPHA:102013 ICD-10:G11.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:G71.0 ICD-11:8C70.40 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102014 Autosomal dominant limb-girdle muscular dystrophy Category ORPHA:102014 ICD-10:G71.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:8C70.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:G71.0 ICD-11:8C70.41 UMLS:C2931907 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102015 Autosomal recessive limb-girdle muscular dystrophy Category ORPHA:102015 ICD-10:G71.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:8C70.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). UMLS:C2931907 E (Exact mapping: the two concepts are equivalent) Autosomal deletion ICD-10:Q93.0 ICD-10:Q93.1 ICD-10:Q93.2 ICD-10:Q93.3 ICD-10:Q93.4 ICD-10:Q93.5 ICD-10:Q93.6 ICD-10:Q93.7 ICD-10:Q93.8 ICD-10:Q93.9 ICD-11:LD43 ICD-11:LD44 UMLS:C0026499 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102020 Autosomal monosomy Category ORPHA:102020 ICD-10:Q93.0 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:Q93.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:Q93.2 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:Q93.3 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:Q93.4 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:Q93.5 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:Q93.6 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:Q93.7 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:Q93.8 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:Q93.9 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:LD43 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:LD44 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). UMLS:C0026499 E (Exact mapping: the two concepts are equivalent) Rickettsiae disease UMLS:C0035585 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102021 Rickettsial disease Category ORPHA:102021 UMLS:C0035585 E (Exact mapping: the two concepts are equivalent) Spotted fever rickettsiae disease ICD-10:A77.0 ICD-10:A77.1 ICD-10:A77.2 ICD-10:A77.3 ICD-10:A77.8 ICD-10:A77.9 ICD-11:1C31 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102022 Spotted fever rickettsiosis Category ORPHA:102022 ICD-10:A77.0 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:A77.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:A77.2 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:A77.3 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:A77.8 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:A77.9 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:1C31 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). Typhus-group rickettsiae disease ICD-10:A75.0 ICD-10:A75.1 ICD-10:A75.2 ICD-10:A75.3 ICD-10:A75.9 ICD-11:1C30 UMLS:C0343758 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102023 Typhus-group rickettsiosis Category ORPHA:102023 ICD-10:A75.0 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:A75.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:A75.2 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:A75.3 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:A75.9 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:1C30 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). UMLS:C0343758 E (Exact mapping: the two concepts are equivalent) HHV-8-related disorder https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102024 Human herpesvirus 8-related disorder Category ORPHA:102024 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102025 OBSOLETE: Nuclear cell envelopathy ORPHA:102025 Cholestatic hepatic amyloidosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary localized amyloidosis https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102069 OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis ORPHA:102069 A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989. Orphanet ICD-10:H35.5 MeSH:C536604 OMIM:204110 UMLS:C1857588 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021 Amaurosis-hypertrichosis syndrome ORPHA:1021 ICD-10:H35.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536604 E (Exact mapping: the two concepts are equivalent) OMIM:204110 E (Exact mapping: the two concepts are equivalent) UMLS:C1857588 E (Exact mapping: the two concepts are equivalent) ICD-10:E85.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102237 Unexplained periodic fever syndrome Category ORPHA:102237 ICD-10:E85.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MCA/MR Multiple congenital anomalies-intellectual disability with or without dysmorphism https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability Category ORPHA:102283 MCA/variable MR Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102284 OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome ORPHA:102284 MCA without intellectual disability Multiple congenital anomalies without intellectual disability with or without dysmorphism https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability Category ORPHA:102285 Ambras syndrome Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. Orphanet ICD-10:Q84.2 MeSH:C536605 OMIM:145701 UMLS:C1840362 Unknown Neonatal Worldwide AND has_cases/families_value : 40.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 Congenital generalized hypertrichosis, Ambras type Clinical subtype ORPHA:1023 ICD-10:Q84.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536605 E (Exact mapping: the two concepts are equivalent) OMIM:145701 E (Exact mapping: the two concepts are equivalent) UMLS:C1840362 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102369 Rare syndromic intellectual disability Category ORPHA:102369 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Glomerular disease https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102373 OBSOLETE: Primary glomerular disease ORPHA:102373 AML and myelodysplastic syndromes related to alkylating agent A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. 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. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). Orphanet ICD-10:C92.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent ORPHA:102379 ICD-10:C92.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. Orphanet ICD-10:C92.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor ORPHA:102381 ICD-10:C92.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents. Orphanet ICD-10:Q73.0 OMIM:601360 UMLS:C1832432 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1027 Autosomal recessive amelia ORPHA:1027 ICD-10:Q73.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:601360 E (Exact mapping: the two concepts are equivalent) UMLS:C1832432 E (Exact mapping: the two concepts are equivalent) AML with t(8;21)(q22;q22) translocation A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count. Orphanet ICD-10:C92.0 ICD-11:2A60.0 Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation ORPHA:102724 ICD-10:C92.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:2A60.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). Ameloonychohypohidrotic ectodermal dysplasia Ameloonychohypohidrotic syndrome A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975. Orphanet ICD-10:Q82.4 MeSH:C538245 OMIM:104570 UMLS:C1863006 No data available Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028 Amelo-onycho-hypohidrotic syndrome ORPHA:1028 ICD-10:Q82.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C538245 E (Exact mapping: the two concepts are equivalent) OMIM:104570 E (Exact mapping: the two concepts are equivalent) UMLS:C1863006 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Hereditary optic neuropathy https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103 OBSOLETE: Genetic optic atrophy ORPHA:103 Amelogenesis imperfecta-nephrocalcinosis syndrome A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure. Orphanet ICD-10:K00.5 MeSH:C538241 OMIM:204690 UMLS:C0403549 UMLS:C2931783 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 11.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 Enamel-renal syndrome ORPHA:1031 ICD-10:K00.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C538241 E (Exact mapping: the two concepts are equivalent) OMIM:204690 E (Exact mapping: the two concepts are equivalent) UMLS:C0403549 E (Exact mapping: the two concepts are equivalent) UMLS:C2931783 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Lysinuric protein intolerance https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1032 OBSOLETE: Hyperdibasic aminoaciduria type 1 ORPHA:1032 ADAM syndrome Amniotic deformity-adhesion-mutilation syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Terminal transverse limb defect https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1034 OBSOLETE: Amniotic bands ORPHA:1034 3-mercaptopyruvate sulfurtransferase deficiency Ampola syndrome MCDU An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981. Orphanet ICD-10:E72.1 OMIM:249650 UMLS:C0796055 No data available Worldwide AND has_cases/families_value : 1.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035 Beta-mercaptolactate cysteine disulfiduria ORPHA:1035 ICD-10:E72.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:249650 E (Exact mapping: the two concepts are equivalent) UMLS:C0796055 E (Exact mapping: the two concepts are equivalent) AMC Multiple congenital arthrogryposis A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. Orphanet ICD-10:Q74.3 ICD-11:LD26.41 MeSH:C536613 MedDRA:10051643 UMLS:C2931264 Autosomal dominant Autosomal recessive Not applicable X-linked recessive Neonatal Australia AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1037 Arthrogryposis multiplex congenita Clinical group ORPHA:1037 ICD-10:Q74.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:LD26.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MeSH:C536613 E (Exact mapping: the two concepts are equivalent) MedDRA:10051643 E (Exact mapping: the two concepts are equivalent) UMLS:C2931264 E (Exact mapping: the two concepts are equivalent) Maltase-glucoamylase deficiency A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa. Orphanet ICD-10:E74.3 ICD-11:5C61.1 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 Chronic diarrhea due to glucoamylase deficiency ORPHA:103907 ICD-10:E74.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:5C61.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). Na-H exchange deficiency Non-syndromic congenital sodium diarrhea A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. Orphanet ICD-10:P78.3 OMIM:270420 OMIM:616868 UMLS:C0267663 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 Congenital sodium diarrhea ORPHA:103908 ICD-10:P78.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:270420 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:616868 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0267663 E (Exact mapping: the two concepts are equivalent) Isolated trehalose intolerance A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere. Orphanet ICD-10:E74.3 ICD-11:5C61.3 OMIM:612119 UMLS:C0268187 Autosomal dominant Greenland AND has_annual_incidence_average_value : 7700.0 AND has_annual_incidence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 Trehalase deficiency ORPHA:103909 ICD-10:E74.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:5C61.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). OMIM:612119 E (Exact mapping: the two concepts are equivalent) UMLS:C0268187 E (Exact mapping: the two concepts are equivalent) A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal. Orphanet ICD-10:P78.3 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910 Congenital enterocyte heparan sulfate deficiency ORPHA:103910 ICD-10:P78.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103912 OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome ORPHA:103912 IPSID Mediterranean lymphoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Alpha-heavy chain disease https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103915 OBSOLETE: Immunoproliferative small intestinal disease ORPHA:103915 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic autoimmune enteropathy https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103916 OBSOLETE: Autoimmune enteropathy type 2 ORPHA:103916 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic autoimmune enteropathy https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103917 OBSOLETE: Autoimmune enteropathy type 3 ORPHA:103917 TCP Tropical calcific chronic pancreatitis A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. Orphanet ICD-10:K86.1 ICD-11:DC32.5 OMIM:608189 UMLS:C1842402 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103918 Tropical pancreatitis ORPHA:103918 ICD-10:K86.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:DC32.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). OMIM:608189 E (Exact mapping: the two concepts are equivalent) UMLS:C1842402 E (Exact mapping: the two concepts are equivalent) AIP A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. Orphanet ICD-10:K86.1 ICD-11:DC33 MedDRA:10069002 UMLS:C2609129 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103919 Autoimmune pancreatitis Clinical group ORPHA:103919 ICD-10:K86.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:DC33 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MedDRA:10069002 E (Exact mapping: the two concepts are equivalent) UMLS:C2609129 E (Exact mapping: the two concepts are equivalent) Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen. Orphanet ICD-10:K52.3 ICD-11:DD72 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103920 Undetermined colitis ORPHA:103920 ICD-10:K52.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:DD72 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). LHON Leber optic atrophy A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy. Orphanet ICD-10:H47.2 ICD-11:8C73.Y OMIM:308905 OMIM:535000 OMIM:619382 UMLS:C0917796 Mitochondrial inheritance Adolescent Adult Denmark AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 1.9743 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 3.22 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 Leber hereditary optic neuropathy ORPHA:104 ICD-10:H47.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:8C73.Y - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). OMIM:308905 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:535000 E (Exact mapping: the two concepts are equivalent) OMIM:619382 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0917796 E (Exact mapping: the two concepts are equivalent) Maroteaux-Verloes-Stanescu syndrome Regressive metaphyseal dysplasia A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. Orphanet ICD-10:Q78.5 MeSH:C537351 OMIM:602111 OMIM:613073 UMLS:C0432226 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 27.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040 Metaphyseal anadysplasia ORPHA:1040 ICD-10:Q78.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537351 E (Exact mapping: the two concepts are equivalent) OMIM:602111 NTBT (ORPHA code's Narrower Term maps to a Broader Term) OMIM:613073 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0432226 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003 Congenital intestinal transport defect Category ORPHA:104003 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104004 Intestinal disease due to vitamin absorption anomaly Category ORPHA:104004 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104005 Intestinal disease due to fat malabsorption Category ORPHA:104005 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104006 Congenital intestinal disease due to an enzymatic defect Category ORPHA:104006 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007 Congenital enteropathy involving intestinal mucosa development Category ORPHA:104007 Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. Orphanet MeSH:D012778 MedDRA:10049416 UMLS:C0036992 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008 Short bowel syndrome Clinical group ORPHA:104008 MeSH:D012778 E (Exact mapping: the two concepts are equivalent) MedDRA:10049416 E (Exact mapping: the two concepts are equivalent) UMLS:C0036992 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009 Rare disease involving intestinal motility Category ORPHA:104009 MeSH:D044483 MedDRA:10057018 UMLS:C0345891 UMLS:C1257915 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010 Intestinal polyposis syndrome Clinical group ORPHA:104010 MeSH:D044483 E (Exact mapping: the two concepts are equivalent) MedDRA:10057018 E (Exact mapping: the two concepts are equivalent) UMLS:C0345891 E (Exact mapping: the two concepts are equivalent) UMLS:C1257915 E (Exact mapping: the two concepts are equivalent) Rare intestinal tumor Rare tumor of bowel UMLS:C0021841 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104011 Rare tumor of intestine Category ORPHA:104011 UMLS:C0021841 E (Exact mapping: the two concepts are equivalent) UMLS:C0021390 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104012 Rare inflammatory bowel disease Category ORPHA:104012 UMLS:C0021390 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104013 Metabolic disease with intestinal involvement Category ORPHA:104013 Adenocarcinoma of the small bowel Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis. Orphanet ICD-10:D01.4 UMLS:C0278803 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.517 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.734 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.174 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.308 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.464 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.588 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.574 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.657 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.551 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.724 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.564 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.79 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.265 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.277 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.377 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.626 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.788 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.219 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.743 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.462 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.477 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.76 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.679 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075 Adenocarcinoma of the small intestine ORPHA:104075 ICD-10:D01.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C0278803 E (Exact mapping: the two concepts are equivalent) Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases. Orphanet ICD-10:C17.0 ICD-10:C17.1 ICD-10:C17.2 ICD-10:C17.3 ICD-10:C17.8 UMLS:C0920305 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104076 Leiomyosarcoma of small intestine ORPHA:104076 ICD-10:C17.0 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:C17.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:C17.2 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:C17.3 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:C17.8 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C0920305 E (Exact mapping: the two concepts are equivalent) ICD-10:K59.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 Myopathic intestinal pseudoobstruction Etiological subtype ORPHA:104077 ICD-10:K59.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-10:K59.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078 Unclassified intestinal pseudoobstruction Etiological subtype ORPHA:104078 ICD-10:K59.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Fetal anasarca Fetal hydrops Generalized fetal edema HF Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). Orphanet ICD-10:P56.0 ICD-10:P56.9 ICD-10:P83.2 ICD-11:KA85 ICD-11:KA85.0 ICD-11:KA85.Y ICD-11:KC41.1 MeSH:D015160 MedDRA:10020529 OMIM:236750 UMLS:C0020305 Not applicable Antenatal Ireland AND has_birth_prevalence_average_value : 134.0 AND has_birth_prevalence_range : >1 / 1000 Thailand AND has_birth_prevalence_average_value : 180.0 AND has_birth_prevalence_range : >1 / 1000 Turkey AND has_birth_prevalence_average_value : 380.0 AND has_birth_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1041 Hydrops fetalis ORPHA:1041 ICD-10:P56.0 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:P56.9 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-10:P83.2 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:KA85 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:KA85.0 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:KA85.Y - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:KC41.1 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD). MeSH:D015160 E (Exact mapping: the two concepts are equivalent) MedDRA:10020529 E (Exact mapping: the two concepts are equivalent) OMIM:236750 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0020305 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare constitutional hemolytic anemia due to an enzyme disorder https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1044 OBSOLETE: Anemia due to adenosine triphosphatase deficiency ORPHA:1044 Water-West syndrome 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. Orphanet ICD-10:D58.8 OMIM:600461 UMLS:C1838120 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 Lethal hemolytic anemia-genital anomalies syndrome ORPHA:1046 ICD-10:D58.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:600461 E (Exact mapping: the two concepts are equivalent) UMLS:C1838120 E (Exact mapping: the two concepts are equivalent) Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms). Orphanet MeSH:D000756 MedDRA:10040661 OMIM:182170 OMIM:205950 OMIM:300751 OMIM:619523 UMLS:C0002896 Autosomal dominant Autosomal recessive Mitochondrial inheritance Not applicable X-linked dominant X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1047 Sideroblastic anemia Category ORPHA:1047 MeSH:D000756 E (Exact mapping: the two concepts are equivalent) MedDRA:10040661 E (Exact mapping: the two concepts are equivalent) OMIM:182170 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:205950 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:300751 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:619523 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0002896 E (Exact mapping: the two concepts are equivalent) A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. Orphanet ICD-11:LA00.0 OMIM:206500 OMIM:619452 Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 35.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 India AND has_birth_prevalence_average_value : 210.0 AND has_birth_prevalence_range : >1 / 1000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 120.0 AND has_birth_prevalence_range : >1 / 1000 Singapore AND has_birth_prevalence_average_value : 58.0 AND has_birth_prevalence_range : 1-5 / 10 000 Thailand AND has_birth_prevalence_average_value : 26.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 20.6 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048 Isolated anencephaly/exencephaly ORPHA:1048 ICD-11:LA00.0 - BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Index term (The ORPHA code is listed in the ICD Index). OMIM:206500 E (Exact mapping: the two concepts are equivalent) OMIM:619452 BTNT (ORPHA code's Broader Term maps to a Narrower Term) Urethral atresia A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting <i>in utero</i> as megacystis, oligohydramnios or anhydramnios, and potter sequence. Orphanet ICD-10:Q64.3 ICD-11:LB31.2 MedDRA:10064895 UMLS:C0345345 UMLS:C1610065 Not applicable Antenatal Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 Atresia of urethra ORPHA:105 ICD-10:Q64.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:LB31.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). MedDRA:10064895 E (Exact mapping: the two concepts are equivalent) UMLS:C0345345 E (Exact mapping: the two concepts are equivalent) UMLS:C1610065 E (Exact mapping: the two concepts are equivalent) Corneal anesthesia-deafness-intellectual disability syndrome Corneal anesthesia-hearing loss-intellectual disability syndrome Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability. Orphanet ICD-10:Q87.8 OMIM:122430 UMLS:C2930866 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 Ramos-Arroyo syndrome ORPHA:1051 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:122430 E (Exact mapping: the two concepts are equivalent) UMLS:C2930866 E (Exact mapping: the two concepts are equivalent) Warburton-Anyane-Yeboa syndrome Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. Orphanet ICD-10:Q99.8 MeSH:C536987 OMIM:257300 OMIM:614114 OMIM:617598 UMLS:C1850343 UMLS:C2931286 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 41.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 Mosaic variegated aneuploidy syndrome ORPHA:1052 OMIM:614114 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:617598 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C1850343 E (Exact mapping: the two concepts are equivalent) UMLS:C2931286 E (Exact mapping: the two concepts are equivalent) ICD-10:Q99.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536987 E (Exact mapping: the two concepts are equivalent) OMIM:257300 E (Exact mapping: the two concepts are equivalent) Vein of Galen arteriovenous malformations A congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis. Orphanet ICD-10:Q28.2 ICD-11:LA90.20 MeSH:C536535 OMIM:618196 UMLS:C0431420 Not applicable Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 Vein of Galen aneurysmal malformation ORPHA:1053 ICD-10:Q28.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:LA90.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MeSH:C536535 E (Exact mapping: the two concepts are equivalent) OMIM:618196 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0431420 E (Exact mapping: the two concepts are equivalent) A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated. Orphanet ICD-10:Q25.4 ICD-11:LA8A.4 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054 Aneurysm of sinus of Valsalva ORPHA:1054 ICD-10:Q25.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:LA8A.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of aneurysms have been described as small as 0.5 cm in diameter and as big as 8x9 cm in size. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. Orphanet ICD-10:Q24.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1055 Congenital left ventricular aneurysm ORPHA:1055 ICD-10:Q24.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare disease with thoracic aortic aneurysm and aortic dissection https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1057 OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome ORPHA:1057 BRBN Bean syndrome A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. Orphanet ICD-10:Q27.8 MeSH:C536240 OMIM:112200 UMLS:C0346072 Autosomal dominant Not applicable Childhood Worldwide AND has_cases/families_value : 200.0 (Case) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 Blue rubber bleb nevus ORPHA:1059 ICD-10:Q27.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536240 E (Exact mapping: the two concepts are equivalent) OMIM:112200 E (Exact mapping: the two concepts are equivalent) UMLS:C0346072 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:F84.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=106 NON RARE IN EUROPE: Autism ORPHA:106 ICD-10:F84.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). Brunzell syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Congenital generalized lipodystrophy https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1060 Systemic cystic angiomatosis-Seip syndrome ORPHA:1060 A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:D18.0 MeSH:C536364 OMIM:106070 UMLS:C1275084 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 9.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 Hereditary neurocutaneous malformation ORPHA:1062 ICD-10:D18.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536364 E (Exact mapping: the two concepts are equivalent) OMIM:106070 E (Exact mapping: the two concepts are equivalent) UMLS:C1275084 E (Exact mapping: the two concepts are equivalent) Nakagawa angioblastoma A rare vascular tumour that may be either congenital or acquired (appearing before the age of 5 years) with slow angiomatous proliferation. Orphanet ICD-10:D18.0 MeSH:C536924 OMIM:607859 UMLS:C0346073 Multigenic/multifactorial Not applicable Childhood Worldwide AND has_cases/families_value : 200.0 (Case) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063 Tufted angioma ORPHA:1063 ICD-10:D18.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536924 E (Exact mapping: the two concepts are equivalent) OMIM:607859 E (Exact mapping: the two concepts are equivalent) UMLS:C0346073 E (Exact mapping: the two concepts are equivalent) Sommer-Rathbun-Battles syndrome An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. Orphanet ICD-10:Q87.8 MeSH:C536371 OMIM:206750 UMLS:C1859782 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536371 E (Exact mapping: the two concepts are equivalent) OMIM:206750 E (Exact mapping: the two concepts are equivalent) UMLS:C1859782 E (Exact mapping: the two concepts are equivalent) Gillespie syndrome A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. Orphanet ICD-10:G11.0 OMIM:206700 UMLS:C0431401 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 Aniridia-cerebellar ataxia-intellectual disability syndrome ORPHA:1065 ICD-10:G11.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:206700 E (Exact mapping: the two concepts are equivalent) UMLS:C0431401 E (Exact mapping: the two concepts are equivalent) An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q13.1 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067 ICD-10:Q13.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Walker-Dyson syndrome An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. Orphanet ICD-10:Q13.1 MeSH:C536568 UMLS:C2931243 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 Aniridia-intellectual disability syndrome ORPHA:1068 ICD-10:Q13.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536568 E (Exact mapping: the two concepts are equivalent) UMLS:C2931243 E (Exact mapping: the two concepts are equivalent) A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. Orphanet ICD-10:Q87.8 OMIM:106220 UMLS:C1862868 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069 Aniridia-absent patella syndrome ORPHA:1069 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:106220 E (Exact mapping: the two concepts are equivalent) UMLS:C1862868 E (Exact mapping: the two concepts are equivalent) Branchiootorenal syndrome 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). Orphanet ICD-10:Q87.8 MeSH:D019280 MedDRA:10071135 OMIM:113650 OMIM:610896 UMLS:C0265234 Autosomal dominant Childhood Infancy Neonatal Canada AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 BOR syndrome ORPHA:107 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:D019280 E (Exact mapping: the two concepts are equivalent) MedDRA:10071135 E (Exact mapping: the two concepts are equivalent) OMIM:113650 E (Exact mapping: the two concepts are equivalent) OMIM:610896 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0265234 E (Exact mapping: the two concepts are equivalent) A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus <i>Anisakis</i>, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock). Orphanet ICD-10:B81.0 ICD-11:1F61 MeSH:D017129 MedDRA:10002533 UMLS:C0162576 UMLS:C2711591 Adolescent Adult Childhood Elderly Japan AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1070 Anisakiasis ORPHA:1070 ICD-10:B81.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:1F61 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MeSH:D017129 E (Exact mapping: the two concepts are equivalent) MedDRA:10002533 E (Exact mapping: the two concepts are equivalent) UMLS:C0162576 E (Exact mapping: the two concepts are equivalent) UMLS:C2711591 E (Exact mapping: the two concepts are equivalent) AEC syndrome Hay-Wells syndrome An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. Orphanet ICD-10:Q82.4 MeSH:C535289 OMIM:106260 UMLS:C1785148 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071 ICD-10:Q82.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C535289 E (Exact mapping: the two concepts are equivalent) OMIM:106260 E (Exact mapping: the two concepts are equivalent) UMLS:C1785148 E (Exact mapping: the two concepts are equivalent) A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal. Orphanet ICD-10:Q87.0 MeSH:C536373 OMIM:106250 UMLS:C1302999 UMLS:C1862866 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome Clinical subtype ORPHA:1072 ICD-10:Q87.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536373 E (Exact mapping: the two concepts are equivalent) OMIM:106250 E (Exact mapping: the two concepts are equivalent) UMLS:C1302999 E (Exact mapping: the two concepts are equivalent) UMLS:C1862866 E (Exact mapping: the two concepts are equivalent) Aughton-Hufnagle syndrome An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.8 Unknown Neonatal Worldwide AND has_cases/families_value : 3.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome Clinical subtype ORPHA:1074 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Ankylosis of teeth A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility. Orphanet ICD-10:K03.5 ICD-11:DA07.61 MeSH:D020254 MedDRA:10044019 UMLS:C0155930 UMLS:C2931182 Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077 Dental ankylosis ORPHA:1077 ICD-10:K03.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:DA07.61 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MeSH:D020254 E (Exact mapping: the two concepts are equivalent) MedDRA:10044019 E (Exact mapping: the two concepts are equivalent) UMLS:C0155930 E (Exact mapping: the two concepts are equivalent) UMLS:C2931182 E (Exact mapping: the two concepts are equivalent) Piussan-Lenaerts-Mathieu syndrome A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.2 MeSH:C537511 OMIM:188201 UMLS:C2931515 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078 ICD-10:Q87.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537511 E (Exact mapping: the two concepts are equivalent) OMIM:188201 E (Exact mapping: the two concepts are equivalent) UMLS:C2931515 E (Exact mapping: the two concepts are equivalent) Babesiosis is an infectious disease caused by protozoa of the genus <i>Babesia</i> and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death. Orphanet ICD-10:B60.0 ICD-11:1F52 MeSH:D001404 MedDRA:10003965 UMLS:C0004576 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108 Babesiosis ORPHA:108 ICD-10:B60.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:1F52 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MeSH:D001404 E (Exact mapping: the two concepts are equivalent) MedDRA:10003965 E (Exact mapping: the two concepts are equivalent) UMLS:C0004576 E (Exact mapping: the two concepts are equivalent) ICD-10:Q24.5 ICD-11:LA8C MedDRA:10061060 UMLS:C0158623 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1081 Coronary artery congenital malformation Category ORPHA:1081 ICD-10:Q24.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:LA8C - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MedDRA:10061060 E (Exact mapping: the two concepts are equivalent) UMLS:C0158623 E (Exact mapping: the two concepts are equivalent) Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 OMIM:614019 OMIM:616212 UMLS:C1956147 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 Microlissencephaly ORPHA:1083 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:LD20.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). OMIM:614019 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:616212 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C1956147 E (Exact mapping: the two concepts are equivalent) Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. Orphanet ICD-10:Q04.3 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 Isolated lissencephaly type 1 without known genetic defects ORPHA:1084 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Rommen-Mueller-Sybert syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1088 OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome ORPHA:1088 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108959 Non-syndromic esophageal malformation Category ORPHA:108959 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108961 Syndromic esophageal malformation Category ORPHA:108961 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108963 Non-syndromic gastroduodenal malformation Category ORPHA:108963 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108965 Syndromic gastroduodenal malformation Category ORPHA:108965 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108967 Non-syndromic intestinal malformation Category ORPHA:108967 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108969 Syndromic intestinal malformation Category ORPHA:108969 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108971 Non-syndromic visceral malformation Category ORPHA:108971 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108973 Syndromic visceral malformation Category ORPHA:108973 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108977 Non-syndromic diaphragmatic or abdominal wall malformation Category ORPHA:108977 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108979 Syndromic diaphragmatic or abdominal wall malformation Category ORPHA:108979 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Structural developmental eye defect https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108985 OBSOLETE: Non-syndromic developmental defect of the eye ORPHA:108985 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.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.Instead, consider using Structural developmental eye defect https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108987 OBSOLETE: Syndromic developmental defect of the eye ORPHA:108987 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108989 Non-syndromic central nervous system malformation Category ORPHA:108989 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108991 Syndrome with a central nervous system malformation as a major feature Category ORPHA:108991 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108993 Non-syndromic respiratory or mediastinal malformation Category ORPHA:108993 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108995 Syndromic respiratory or mediastinal malformation Category ORPHA:108995 UMLS:C0002871 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108997 Rare anemia Category ORPHA:108997 UMLS:C0002871 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108999 Rare disorder due to toxic effects Category Head of classification ORPHA:108999 BRRS Myhre-Riley-Smith syndrome A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. Orphanet ICD-10:Q87.8 OMIM:158350 UMLS:C0265326 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 Bannayan-Riley-Ruvalcaba syndrome ORPHA:109 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:158350 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C0265326 E (Exact mapping: the two concepts are equivalent) ICD-10:Q68.8 MeSH:D001176 UMLS:C0003886 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109007 Arthrogryposis syndrome Category ORPHA:109007 ICD-10:Q68.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:D001176 E (Exact mapping: the two concepts are equivalent) UMLS:C0003886 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109009 Syndrome with limb malformations as a major feature Category ORPHA:109009 ICD-10:Q87.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109011 Non-syndromic limb malformation Category ORPHA:109011 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mayer-Rokitansky-Küster-Hauser syndrome type 2 OMIM:267400 UMLS:C1849432 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1092 Renal-genital-middle ear anomalies ORPHA:1092 OMIM:267400 E (Exact mapping: the two concepts are equivalent) UMLS:C1849432 E (Exact mapping: the two concepts are equivalent) Teebi-Kaurah syndrome A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth. Orphanet ICD-10:Q87.8 MeSH:C536948 OMIM:607214 UMLS:C2931373 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094 Anonychia-microcephaly syndrome ORPHA:1094 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536948 E (Exact mapping: the two concepts are equivalent) OMIM:607214 E (Exact mapping: the two concepts are equivalent) UMLS:C2931373 E (Exact mapping: the two concepts are equivalent) 49,XXXXX syndrome Penta-X Poly-X Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). Orphanet ICD-10:Q97.1 ICD-11:LD50.Y MeSH:C535319 UMLS:C0265497 UMLS:C2937419 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11 Pentasomy X ORPHA:11 ICD-10:Q97.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:LD50.Y - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). MeSH:C535319 E (Exact mapping: the two concepts are equivalent) UMLS:C0265497 E (Exact mapping: the two concepts are equivalent) UMLS:C2937419 E (Exact mapping: the two concepts are equivalent) BBS A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations. Orphanet ICD-10:Q87.8 ICD-11:5A61.0 MeSH:D020788 MedDRA:10056715 OMIM:209900 OMIM:600151 OMIM:605231 OMIM:615981 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615985 OMIM:615986 OMIM:615987 OMIM:615988 OMIM:615989 OMIM:615990 OMIM:615991 OMIM:615992 OMIM:615993 OMIM:615994 OMIM:615995 OMIM:615996 OMIM:617119 OMIM:617406 UMLS:C0752166 Autosomal recessive Oligogenic Antenatal Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000 Tunisia AND has_point_prevalence_average_value : 0.64 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 Bardet-Biedl syndrome ORPHA:110 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:5A61.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). MeSH:D020788 E (Exact mapping: the two concepts are equivalent) MedDRA:10056715 E (Exact mapping: the two concepts are equivalent) OMIM:209900 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:600151 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:605231 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615981 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615982 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615983 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615984 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615985 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615986 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615987 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615988 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615989 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615990 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615991 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615992 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615993 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615994 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615995 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:615996 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:617119 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:617406 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0752166 E (Exact mapping: the two concepts are equivalent) Cassia Stocco dos Santos syndrome A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.8 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome ORPHA:1101 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). 14q22 microdeletion syndrome Al Frayh-Facharzt-Haque syndrome Monosomy 14q22 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1102 Anophthalmia-hypothalamo-pituitary insufficiency syndrome ORPHA:1102 Fryns microphthalmia syndrome Microphthalmia with facial clefting A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Orphanet ICD-10:Q87.8 MeSH:C537767 OMIM:600776 UMLS:C1833339 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 17.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104 Anophthalmia plus syndrome ORPHA:1104 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537767 E (Exact mapping: the two concepts are equivalent) OMIM:600776 E (Exact mapping: the two concepts are equivalent) UMLS:C1833339 E (Exact mapping: the two concepts are equivalent) Anophthalmia-syndactyly syndrome OAS Ophthalmoacromelic syndrome Waardenburg anophthalmia syndrome A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. Orphanet ICD-10:Q87.2 OMIM:206920 UMLS:C0599973 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 35.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 Microphthalmia with limb anomalies ORPHA:1106 ICD-10:Q87.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:206920 E (Exact mapping: the two concepts are equivalent) UMLS:C0599973 E (Exact mapping: the two concepts are equivalent) 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria Cardioskeletal myopathy-neutropenia syndrome MGA2 X-linked cardioskeletal myopathy and neutropenia Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. Orphanet ICD-10:E71.1 MeSH:D056889 OMIM:302060 UMLS:C0574083 X-linked recessive Childhood Europe AND has_point_prevalence_average_value : 0.22 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 Barth syndrome ORPHA:111 ICD-10:E71.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:D056889 E (Exact mapping: the two concepts are equivalent) OMIM:302060 E (Exact mapping: the two concepts are equivalent) UMLS:C0574083 E (Exact mapping: the two concepts are equivalent) A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. Orphanet ICD-10:Q87.8 MeSH:C537785 OMIM:107500 UMLS:C1862682 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ORPHA:1110 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537785 E (Exact mapping: the two concepts are equivalent) OMIM:107500 E (Exact mapping: the two concepts are equivalent) UMLS:C1862682 E (Exact mapping: the two concepts are equivalent) Johnson-Munson syndrome An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q87.8 MeSH:C535881 OMIM:207620 UMLS:C1859754 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ORPHA:1112 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C535881 E (Exact mapping: the two concepts are equivalent) OMIM:207620 E (Exact mapping: the two concepts are equivalent) UMLS:C1859754 E (Exact mapping: the two concepts are equivalent) An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. Orphanet ICD-10:Q87.2 OMIM:600384 UMLS:C1838161 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113 ICD-10:Q87.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:600384 E (Exact mapping: the two concepts are equivalent) UMLS:C1838161 E (Exact mapping: the two concepts are equivalent) A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies. Orphanet ICD-10:Q84.8 MeSH:C536840 OMIM:107600 OMIM:600360 UMLS:C0282160 Autosomal dominant Autosomal recessive Not applicable Antenatal Neonatal Denmark AND has_birth_prevalence_average_value : 7.69 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 Aplasia cutis congenita ORPHA:1114 ICD-10:Q84.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536840 E (Exact mapping: the two concepts are equivalent) OMIM:107600 E (Exact mapping: the two concepts are equivalent) OMIM:600360 E (Exact mapping: the two concepts are equivalent) UMLS:C0282160 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Aplasia cutis congenita https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1115 OBSOLETE: Recessive aplasia cutis congenita of limbs ORPHA:1115 Bronspiegel-Zelnick syndrome An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q84.8 MeSH:C537788 OMIM:207731 UMLS:C1859753 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116 ICD-10:Q84.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537788 E (Exact mapping: the two concepts are equivalent) OMIM:207731 E (Exact mapping: the two concepts are equivalent) UMLS:C1859753 E (Exact mapping: the two concepts are equivalent) Gershoni-Baruch-Leibo syndrome A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. Orphanet ICD-10:Q84.8 OMIM:601075 UMLS:C1832826 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 Aplasia cutis-myopia syndrome ORPHA:1117 ICD-10:Q84.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:601075 E (Exact mapping: the two concepts are equivalent) UMLS:C1832826 E (Exact mapping: the two concepts are equivalent) A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Orphanet ICD-10:Q73.8 MeSH:C537930 OMIM:113310 UMLS:C1862100 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 50.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 Fibular aplasia-ectrodactyly syndrome ORPHA:1118 ICD-10:Q73.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537930 E (Exact mapping: the two concepts are equivalent) OMIM:113310 E (Exact mapping: the two concepts are equivalent) UMLS:C1862100 E (Exact mapping: the two concepts are equivalent) Renal tubular normotensive hypokalemic alkalosis with hypercalciuria Salt-losing tubular disorder, Henle's loop type Salt-wasting tubulopathy, Henle's loop type 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. Orphanet ICD-10:E26.8 ICD-11:GB90.43 MeSH:D001477 MedDRA:10050839 OMIM:241200 OMIM:300971 OMIM:601198 OMIM:601678 OMIM:602522 OMIM:607364 OMIM:613090 UMLS:C0004775 Autosomal dominant Autosomal recessive X-linked recessive Adolescent Adult Antenatal Childhood Infancy Neonatal Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Kuwait AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112 Bartter syndrome ORPHA:112 ICD-10:E26.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code). ICD-11:GB90.43 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MeSH:D001477 E (Exact mapping: the two concepts are equivalent) MedDRA:10050839 E (Exact mapping: the two concepts are equivalent) OMIM:241200 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:300971 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:601198 NTBT (ORPHA code's Narrower Term maps to a Broader Term) OMIM:601678 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:602522 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:607364 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:613090 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0004775 E (Exact mapping: the two concepts are equivalent) Mardini-Nyhan syndrome Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. Orphanet ICD-10:Q87.8 OMIM:601612 Antenatal Worldwide AND has_cases/families_value : 9.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120 Lung agenesis-heart defect-thumb anomalies syndrome ORPHA:1120 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:601612 E (Exact mapping: the two concepts are equivalent) Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:Q73.8 Antenatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121 Radial deficiency-tibial hypoplasia syndrome ORPHA:1121 ICD-10:Q73.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Ulnar hypoplasia-lobster-claw deformity of feet syndrome Van den Berghe-Dequecker syndrome Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Orphanet ICD-10:Q73.8 MeSH:C536936 OMIM:314360 UMLS:C1839123 Neonatal Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122 Ulnar hypoplasia-split foot syndrome ORPHA:1122 ICD-10:Q73.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536936 E (Exact mapping: the two concepts are equivalent) OMIM:314360 E (Exact mapping: the two concepts are equivalent) UMLS:C1839123 E (Exact mapping: the two concepts are equivalent) Caudal appendage-hearing loss syndrome Lynch-Lee-Murday syndrome Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Orphanet UMLS:C2931593 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 Caudal appendage-deafness syndrome ORPHA:1123 UMLS:C2931593 E (Exact mapping: the two concepts are equivalent) Oculomotor apraxia, Cogan type Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the <i>NPHP1</i> gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. Orphanet ICD-10:H51.8 ICD-11:9C82.4 MeSH:C537423 OMIM:257550 UMLS:C0543874 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 50.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125 Ocular motor apraxia, Cogan type ORPHA:1125 ICD-10:H51.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). ICD-11:9C82.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Index term (The ORPHA code is listed in the ICD Index). MeSH:C537423 E (Exact mapping: the two concepts are equivalent) OMIM:257550 E (Exact mapping: the two concepts are equivalent) UMLS:C0543874 E (Exact mapping: the two concepts are equivalent) A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition. Orphanet ICD-10:Q04.3 OMIM:601374 UMLS:C1832412 Antenatal Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126 Aprosencephaly cerebellar dysgenesis ORPHA:1126 ICD-10:Q04.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:601374 E (Exact mapping: the two concepts are equivalent) UMLS:C1832412 E (Exact mapping: the two concepts are equivalent) Kosztolanyi syndrome A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. Orphanet ICD-10:Q87.8 UMLS:C2931398 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). UMLS:C2931398 E (Exact mapping: the two concepts are equivalent) BDCS Follicular atrophoderma and basal cell carcinomas Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. Orphanet ICD-10:L98.8 MeSH:C537663 OMIM:301845 UMLS:C0346104 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 143.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113 Bazex-Dupré-Christol syndrome ORPHA:113 ICD-10:L98.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537663 E (Exact mapping: the two concepts are equivalent) OMIM:301845 E (Exact mapping: the two concepts are equivalent) UMLS:C0346104 E (Exact mapping: the two concepts are equivalent) De Die-Smulders-Vles-Fryns syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q87.8 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130 Arachnodactyly-intellectual disability-dysmorphism syndrome ORPHA:1130 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Mandibulofacial dysostosis, Toriello type X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. Orphanet ICD-10:Q75.4 OMIM:301950 UMLS:C1844918 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 X-linked mandibulofacial dysostosis ORPHA:1131 ICD-10:Q75.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:301950 E (Exact mapping: the two concepts are equivalent) UMLS:C1844918 E (Exact mapping: the two concepts are equivalent) ICD-10:Q25.4 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 Aortic arch defects Category ORPHA:1132 ICD-10:Q25.4 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). Acrorenal defect-ectodermal dysplasia-diabetes syndrome A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. Orphanet ICD-10:Q87.8 MeSH:C537427 OMIM:207780 UMLS:C0342280 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 AREDYLD syndrome ORPHA:1133 ICD-10:Q87.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C537427 E (Exact mapping: the two concepts are equivalent) OMIM:207780 E (Exact mapping: the two concepts are equivalent) UMLS:C0342280 E (Exact mapping: the two concepts are equivalent) Isolated nose agenesis An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia. Orphanet ICD-10:Q30.1 ICD-11:LA70.0 MeSH:C537438 UMLS:C0265740 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 20.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134 Isolated arrhinia ORPHA:1134 ICD-10:Q30.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). ICD-11:LA70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MeSH:C537438 E (Exact mapping: the two concepts are equivalent) UMLS:C0265740 E (Exact mapping: the two concepts are equivalent) A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Orphanet ICD-10:Q87.0 OMIM:603457 UMLS:C1863878 Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1135 Arrhinia-choanal atresia-microphthalmia syndrome ORPHA:1135 ICD-10:Q87.0 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:603457 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C1863878 E (Exact mapping: the two concepts are equivalent) Arnold-Chiari malformation type 2 Chiari malformation type 2 Chiari malformation type II A rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache. Orphanet ICD-10:Q07.0 ICD-11:LA03 MedDRA:10056945 OMIM:207950 UMLS:C0003803 UMLS:C0555206 UMLS:C0750930 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1136 Arnold-Chiari malformation type II ORPHA:1136 ICD-10:Q07.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). ICD-11:LA03 - E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD). MedDRA:10056945 E (Exact mapping: the two concepts are equivalent) OMIM:207950 E (Exact mapping: the two concepts are equivalent) UMLS:C0003803 E (Exact mapping: the two concepts are equivalent) UMLS:C0555206 E (Exact mapping: the two concepts are equivalent) UMLS:C0750930 E (Exact mapping: the two concepts are equivalent) Kashani-Strom-Utley syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1137 OBSOLETE: Pulmonary aortic stenosis obstructive uropathy ORPHA:1137 ICD-10:Q25.7 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1138 Abnormal origin of the pulmonary artery Clinical group ORPHA:1138 ICD-10:Q25.7 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic cerebral malformation due to abnormal neuronal migration https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1139 OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome ORPHA:1139 A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. Orphanet ICD-10:Q87.5 MeSH:C538271 OMIM:109000 UMLS:C1862381 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114 Auriculoosteodysplasia ORPHA:114 ICD-10:Q87.5 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C538271 E (Exact mapping: the two concepts are equivalent) OMIM:109000 E (Exact mapping: the two concepts are equivalent) UMLS:C1862381 E (Exact mapping: the two concepts are equivalent) 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. Orphanet ICD-10:Q74.3 MeSH:C536614 OMIM:208100 UMLS:C1859721 Autosomal recessive Neonatal Europe AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143 Neurogenic arthrogryposis multiplex congenita ORPHA:1143 ICD-10:Q74.3 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C536614 E (Exact mapping: the two concepts are equivalent) OMIM:208100 E (Exact mapping: the two concepts are equivalent) UMLS:C1859721 E (Exact mapping: the two concepts are equivalent) Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome Distal arthrogryposis type 6 A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Orphanet ICD-10:Q68.8 MeSH:C535386 OMIM:108200 UMLS:C1862471 Unknown Neonatal Worldwide AND has_cases/families_value : 1.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome ORPHA:1144 ICD-10:Q68.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C535386 E (Exact mapping: the two concepts are equivalent) OMIM:108200 E (Exact mapping: the two concepts are equivalent) UMLS:C1862471 E (Exact mapping: the two concepts are equivalent) SMAX2 Spinal muscular atrophy with arthrogryposis X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements <i>in utero</i> and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. Orphanet ICD-10:G12.1 MeSH:C535380 OMIM:301830 UMLS:C1844934 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 14.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 Infantile-onset X-linked spinal muscular atrophy ORPHA:1145 ICD-10:G12.1 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). MeSH:C535380 E (Exact mapping: the two concepts are equivalent) OMIM:301830 E (Exact mapping: the two concepts are equivalent) UMLS:C1844934 E (Exact mapping: the two concepts are equivalent) DA1 Digitotalar dysmorphism 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. Orphanet ICD-10:Q68.8 OMIM:108120 OMIM:126050 OMIM:614335 OMIM:618435 OMIM:619110 UMLS:C0220662 UMLS:C1852085 Autosomal dominant Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 Distal arthrogryposis type 1 ORPHA:1146 ICD-10:Q68.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:108120 E (Exact mapping: the two concepts are equivalent) OMIM:126050 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:614335 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:618435 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:619110 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C0220662 E (Exact mapping: the two concepts are equivalent) UMLS:C1852085 E (Exact mapping: the two concepts are equivalent) Distal arthrogryposis type 2B Freeman-Sheldon syndrome variant Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Orphanet ICD-10:Q68.8 OMIM:601680 OMIM:616266 OMIM:618435 UMLS:C1834523 Autosomal dominant Not applicable Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 Sheldon-Hall syndrome ORPHA:1147 ICD-10:Q68.8 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:601680 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:616266 BTNT (ORPHA code's Broader Term maps to a Narrower Term) OMIM:618435 BTNT (ORPHA code's Broader Term maps to a Narrower Term) UMLS:C1834523 E (Exact mapping: the two concepts are equivalent) Arthrogryposis-like syndrome Kuskokwim disease A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. Orphanet ICD-10:Q87.2 OMIM:259450 UMLS:C1859709 Autosomal recessive Childhood Neonatal Worldwide AND has_cases/families_value : 8.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149 Kuskokwim syndrome ORPHA:1149 ICD-10:Q87.2 - NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet). OMIM:259450 NTBT (ORPHA code's Narrower Term maps to a Broader Term) UMLS:C1859709 E (Exact mapping: the two concepts are equivalent)