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progressieve familiaire intrahepatische cholestase type 2 (aandoening)
progressieve familiaire intrahepatische cholestase type 2
Progressive familial intrahepatic cholestasis type 2
PFIC2 - progressive familial intrahepatic cholestasis type 2
BSEP (bile salt export pump) deficiency
A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage.
Id1155841005
StatusPrimitive
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetK83.1
TermObstructie van galweg
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