Progressive familial intrahepatic cholestasis type 2

Preferred Label : Progressive familial intrahepatic cholestasis type 2;

ICD-11 definition : Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin characterized by cholestasis and evolving into secondary biliary cirrhosis.;

ICD-11 synonym : PFIC2 - [Progressive familial intrahepatic cholestasis type 2];

ICD-11 acronym : PFIC2;

Details

Origin ID

1168921980;

UMLS CUI

C3489789;

Currated CISMeF NLP mapping
- Cholestasis, progressive familial intrahepatic 2 [MeSH concept]
- Cholestasis, progressive familial intrahepatic, 2 [OMIM Phenotype]
- Progressive familial intrahepatic cholestasis type 2 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 2 (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 2 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 2 [DO Concept]
See also inter- (CISMeF)
- ABCB11 wt Allele [NCIt concept]
- ATP binding cassette subfamily B member 11 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholestasis, progressive familial intrahepatic 2 [MeSH concept]
- Cholestasis, progressive familial intrahepatic, 2 [OMIM Phenotype]
- Progressive familial intrahepatic cholestasis type 2 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 2 (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 2 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 2 [DO Concept]

Keyword's position in hierarchy(ies) :

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