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CIM11 5C50.A0

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

Argininosuccinic aciduria

chapitre
05 Endocrine, nutritional or metabolic diseases
bloc
Inborn errors of metabolism
definition
Argininosuccinic aciduria is an autosomal recessive inherited deficiency of argininosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioural disorders. Onset
type
category
navigateur oms (fr)
https://icd.who.int/browse/2026-01/mms/fr#439383288 ↗