| progressieve intrahepatische cholestase (aandoening) | | progressieve intrahepatische cholestase | | Progressive intrahepatic cholestasis | | PFIC - progressive familial intrahepatic cholestasis
Fatal intrahepatic cholestasis
Progressive familial intrahepatic cholestasis
Familial intrahepatic cholestasis
| | A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice. |
| | Id | 74162007 | | Status | Primitive |
| PALGA thesaurus simple reference set for pathology |
| 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 Orphanet simple map | 172 |
| SNOMED CT to ICD-10 extended map | | Target | K83.1 | | Rule | TRUE | | Advice | ALWAYS K83.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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