Medical Imaging and Diagnostic Ontology

Last uploaded: April 25, 2022
Preferred Name

progressive familial intrahepatic cholestasis
Synonyms

PFIC; Byler disease

Definitions

An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

ID

http://purl.obolibrary.org/obo/DOID_0070221

database_cross_reference

ORDO:172

SNOMEDCT_US_2021_09_01:74162007

NCI:C84453

OMIM:PS211600

UMLS_CUI:C0268312

definition

An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

has_exact_synonym

PFIC; Byler disease

has_obo_namespace

disease_ontology

IAO_0000115

An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

id

DOID:0070221

label

progressive familial intrahepatic cholestasis

notation

DOID:0070221

note

An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

prefLabel

progressive familial intrahepatic cholestasis

subClassOf

http://purl.obolibrary.org/obo/DOID_1852

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