5C50.00

ICD-11 MMS 2026-01

Classical phenylketonuria

Description

Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterised in untreated patients by severe intellectual deficit and neuropsychiatric complications.

Index terms

  • Classical phenylketonuria
  • Folling disease
  • PAH - [phenylalanine hydroxylase] deficiency
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  • Typical PKU - [phenylketonuria]
  • Typical phenylketonuria
  • hyperphenylalaninaemia Type I
  • imbecilitus phenylpyruvica
  • oligophrenia phenylpyruvica
  • phenylpyruvic aciduria
  • phenylpyruvic oligophrenia
  • Classical phenylketonuria, phenylalanine hydroxylase partial deficiency
  • Classical phenylketonuria, phenylalanine hydroxylase total deficiency

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

  • 5C50.01 – Nonclassical phenylketonuria
  • 5C50.02 – Embryofetopathy due to maternal phenylketonuria
  • 5C50.0Y – Other specified phenylketonuria
  • 5C50.0Z – Phenylketonuria, unspecified

Foundation entity

Classical phenylketonuria – http://id.who.int/icd/entity/2084504393

Part of: 5C50.0: Phenylketonuria › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases