OMOP Concept 4028271
X-linked hereditary disease
StandardConditionSNOMED128430005Disorder
Maps from
3
Descendants
391
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to X-linked hereditary disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 122780 | X-linked hyperuricemia | Non-standard |
| CIEL | 159334 | X-linked severe combined immunodeficiency | Non-standard |
| MeSH | D040181 | Genetic Diseases, X-Linked | Non-standard |
Synonyms
Alternative names recorded for X-linked hereditary disease across source vocabularies.
- enfermedad hereditaria ligada al cromosoma X
- enfermedad hereditaria ligada al cromosoma X (trastorno)
- X-linked hereditary disease (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(5)Roll up to these when you need a wider cohort.
Narrower concepts
(391)Included automatically when you query with descendants.
- 1Absent radius, anogenital anomalies syndrome
- 1Adrenoleukodystrophy
- 1Adrenomyodystrophy
- 1Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
- 1Ataxia with deafness and intellectual disability syndrome
- 1Atypical Rett syndrome
- 1Beta-propeller protein-associated neurodegeneration
- 1Dilated cardiomyopathy 3B
- 1Fabry's disease
- 1Familial x-linked hypophosphatemic vitamin D refractory rickets
- 1GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
- 1Glucose-6-phosphate dehydrogenase deficiency anemia
- 1Hereditary factor IX deficiency disease
- 1Hereditary factor VIII deficiency disease
- 1Hypohidrotic X-linked ectodermal dysplasia
- 1Lissencephaly type 1 due to doublecortin gene mutation
- 1Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
- 1MECP2 related disorder
- 1Oculo-palato-digital syndrome
- 1Ogden syndrome
- 1Ohdo syndrome, Maat-Kievit-Brunner type
- 1PCDH19 clustering epilepsy
- 1Pelizaeus-Merzbacher disease
- 1Placental sulfatase deficiency
- 1Seemanova Lesny syndrome
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