OMOP Concept 607718
Progressive familial intrahepatic cholestasis type 2
StandardConditionSNOMED1155841005Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2021
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Progressive familial intrahepatic cholestasis type 2 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535934 | Cholestasis, progressive familial intrahepatic 2 | Non-standard |
Synonyms
Alternative names recorded for Progressive familial intrahepatic cholestasis type 2 across source vocabularies.
- BSEP (bile salt export pump) deficiency
- CIFP2 - colestasis intrahepática familiar progresiva tipo 2
- colestasis intrahepática familiar progresiva tipo 2
- colestasis intrahepática familiar progresiva tipo 2 (trastorno)
- deficiencia de la bomba exportadora de sales biliares
- PFIC2 - progressive familial intrahepatic cholestasis type 2
- Progressive familial intrahepatic cholestasis type 2 (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(45)Roll up to these when you need a wider cohort.
- 1Cholestasis in newborn
- 1Neonatal metabolic disorder
- 1Progressive intrahepatic cholestasis
- 2Autosomal recessive hereditary disorder
- 2Cholestasis
- 2Chronic liver disease
- 2Chronic metabolic disorder
- 2Digestive system hereditary disorder
- 2Disease of liver
- 2Disorder of biliary tract
- 2Disorder of bilirubin metabolism
- 2Disorder of digestive system specific to fetus OR newborn
- 2Intrahepatic cholestasis
- 2Metabolic and genetic disorder affecting the liver
- 2Metabolic disease
- 2Neonatal disorder
- 3Autosomal hereditary disorder
- 3Chronic digestive system disorder
- 3Chronic disease
- 3Disease
- 3Disorder of digestive system
- 3Disorder of fetus and/or newborn
- 3Disorder of liver and/or biliary tract
- 3Disorder of porphyrin metabolism
- 3Finding of biliary tract
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