Progressive intrahepatic cholestasis
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Progressive familial intrahepatic cholestasis type 1 (disorder)
Progressive familial intrahepatic cholestasis type 1
PFIC1 - progressive familial intrahepatic cholestasis type 1
Byler syndrome
An infantile hereditary disorder of bile formation that is hepatocellular in origin and associated with extrahepatic features. Onset occurs mostly during infancy with clinical signs of cholestasis with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Caused by mutations in the ATP8B1 gene (18q21-22) encoding the FIC1 protein expressed at the canalicular membrane of hepatocytes as well as in other epithelia. Transmission is autosomal recessive.
progressieve familiaire intrahepatische cholestase type 1
Id1155913007
StatusPrimitive
Finding siteIntrahepatic biliary tract structure
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetK76.8
RuleTRUE
AdviceALWAYS K76.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified