ICD-11 code : 5C50.A0;
Preferred Label : Argininosuccinic aciduria;
ICD-11 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 can also occur later with hyperammonemic coma or behavioural
disorders that simulate psychiatric disorders.;
ICD-11 synonym : Argininosuccinate lyase deficiency; Argininosuccinase deficiency;
ICD-11 inclusion : metabolic disorder of arginosuccinic acid; argininosuccinic acidaemia;
Origin ID : 439383288;
UMLS CUI : C0268547;
Currated CISMeF NLP mapping
- ICD-10 Mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
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 can also occur later with hyperammonemic coma or behavioural
disorders that simulate psychiatric disorders.
