Progressive familial intrahepatic cholestasis type 3

Preferred Label : Progressive familial intrahepatic cholestasis type 3;

ICD-11 definition : PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. it is characterized by cholestasis leading to end-stage liver disease before adulthood. Extrahepatic features include persistent short stature, watery diarrhea, pancreatitis and sensorineural deafness.;

ICD-11 synonym : PFIC3 - [Progressive familial intrahepatic cholestasis type 3];

ICD-11 acronym : PFIC3;

Détails

Origin ID

1276600959;

UMLS CUI

C1865643;

Currated CISMeF NLP mapping
- Cholestasis, progressive familial intrahepatic 3 [MeSH concept]
- Cholestasis, progressive familial intrahepatic, 3 [OMIM Phenotype]
- Progressive familial intrahepatic cholestasis type 3 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 3 (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 3 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 3 [DO Concept]
See also inter- (CISMeF)
- ABCB4 wt Allele [NCIt concept]
- ATP binding cassette subfamily B member 4 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholestasis, progressive familial intrahepatic 3 [MeSH concept]
- Cholestasis, progressive familial intrahepatic, 3 [OMIM Phenotype]
- Progressive familial intrahepatic cholestasis type 3 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 3 (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 3 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 3 [DO Concept]

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