CIM11 5C50.0
CIM-11 MMS (diagnostics, nouvelle classification OMS) — fichier du 2026-09-09
Phenylketonuria
- chapitre
- 05 Endocrine, nutritional or metabolic diseases
- bloc
- Inborn errors of metabolism
- definition
- Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phe
- type
- category
- navigateur oms (fr)
- https://icd.who.int/browse/2026-01/mms/fr#444122923 ↗