| Metadata | |
|---|---|
| ID | DOID:0070221 |
| Name | progressive familial intrahepatic cholestasis |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15239083, https://www.ncbi.nlm.nih.gov/pubmed/8014759 |
| Xrefs |
SNOMEDCT_US_2023_03_01:74162007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
PFIC; Byler disease [EXACT] |
| Parent Relationships |