| progressieve familiaire intrahepatische cholestase type 1 (aandoening) | | progressieve familiaire intrahepatische cholestase type 1 | | 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. |
| | Id | 1155913007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | K83.1 | | Term | Obstructie van galweg |
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| SNOMED CT to ICD-10 extended map | | Target | K76.8 | | Rule | TRUE | | Advice | ALWAYS K76.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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