5C58.03

ICD-11 MMS 2026-01

Progressive familial intrahepatic cholestasis

Description

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.

Index terms

  • Progressive familial intrahepatic cholestasis
  • PFIC - [Progressive familial intrahepatic cholestasis]
  • Progressive familial intrahepatic cholestasis type 1
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  • PFIC1 - [Progressive familial intrahepatic cholestasis type 1]
  • Progressive familial intrahepatic cholestasis type 2
  • PFIC2 - [Progressive familial intrahepatic cholestasis type 2]
  • Progressive familial intrahepatic cholestasis type 3
  • PFIC3 - [Progressive familial intrahepatic cholestasis type 3]

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C58.00 – Crigler-Najjar syndrome
  • 5C58.01 – Gilbert syndrome
  • 5C58.02 – Dubin-Johnson syndrome
  • 5C58.04 – Benign recurrent intrahepatic cholestasis
  • 5C58.0Y – Other specified disorders of bilirubin metabolism or excretion
  • 5C58.0Z – Disorders of bilirubin metabolism or excretion, unspecified

Foundation entity

Progressive familial intrahepatic cholestasis – http://id.who.int/icd/entity/1457142642

Allowed postcoordination axes

Part of: 5C58.0: Disorders of bilirubin metabolism or excretion › 5C58: Inborn errors of porphyrin or heme metabolism › 05: Endocrine, nutritional or metabolic diseases