OMOP Concept 36716035
Joubert syndrome with congenital hepatic fibrosis
StandardConditionSNOMED721847002Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Joubert syndrome with congenital hepatic fibrosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C536430 | COACH syndrome | Non-standard |
| Nebraska Lexicon | 721847002 | Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis | Non-standard |
Synonyms
Alternative names recorded for Joubert syndrome with congenital hepatic fibrosis across source vocabularies.
- Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis
- COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome
- COACH syndrome
- Gentile syndrome
- Joubert syndrome with congenital hepatic fibrosis (disorder)
- Joubert syndrome with hepatic defect
- síndrome de Joubert con fibrosis hepática congénita
- síndrome de Joubert con fibrosis hepática congénita (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(66)Roll up to these when you need a wider cohort.
- 1Congenital hepatic fibrosis
- 1Digestive system hereditary disorder
- 1Joubert syndrome
- 2Autosomal recessive hereditary disorder
- 2Congenital anomaly of liver
- 2Developmental hereditary disorder
- 2Disorder of digestive system
- 2Familial aplasia of the vermis
- 2Hepatic fibrosis
- 2Hereditary disorder by system
- 2Hereditary disorder of nervous system
- 3Aplasia of the vermis
- 3Autosomal hereditary disorder
- 3Congenital abnormality of liver and/or biliary tract
- 3Developmental disorder
- 3Digestive system finding
- 3Disease of liver
- 3Disorder of body system
- 3Disorder of nervous system
- 3Hereditary disease
- 3Lesion of liver
- 4Absence of the vermis
- 4Aplasia of cerebellum
- 4Clinical finding
- 4Congenital anomaly of abdomen
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