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CIM11 5C55.01

CIM-11 MMS (diagnostics, nouvelle classification OMS) — fichier du 2026-09-09

Lesch-Nyhan syndrome

chapitre
05 Endocrine, nutritional or metabolic diseases
bloc
Inborn errors of metabolism
definition
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioural problems. Patients are normal at birth. Ps
type
category
navigateur oms (fr)
https://icd.who.int/browse/2026-01/mms/fr#1886495906 ↗