5C50.00 Classical phenylketonuria
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
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.
synonyms
- Classical phenylketonuria
- phenylpyruvic oligophrenia
- oligophrenia phenylpyruvica
- imbecilitus phenylpyruvica
- Typical phenylketonuria
- phenylpyruvic aciduria
- PAH - [phenylalanine hydroxylase] deficiency
- hyperphenylalaninaemia Type I
- Typical PKU - [phenylketonuria]
- Folling disease
- Classical phenylketonuria, phenylalanine hydroxylase partial deficiency
- Classical phenylketonuria, phenylalanine hydroxylase total deficiency
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