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 (≤ -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 Crohns 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)