ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C58 — Inborn errors of porphyrin or heme metabolism
5C58.0 — Disorders of bilirubin metabolism or excretion
5C58.03 — Progressive familial intrahepatic cholestasis
ICD-11 5C58.03 — Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) refers to 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. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: