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.
Clinical courseprogressief
PALGA thesaurus simple reference set for pathology
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermObstructie van galweg
SNOMED CT to Orphanet simple map172
SNOMED CT to ICD-10 extended map
AdviceALWAYS K83.1
CorrelationSNOMED CT source code to target map code correlation not specified