Adenylosuccinate lyase deficiency

Preferred Label : Adenylosuccinate lyase deficiency;

ICD-11 definition : Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy.;

ICD-11 synonym : ADSL deficiency; Adenylosuccinase deficiency; ADSL - [Adenylosuccinate lyase] deficiency;

Details

Origin ID

1725611919;

UMLS CUI

C0268126;

Automatic exact mappings (from CISMeF team)
- Adenylosuccinate lyase [LOINC component]
- Adenylosuccinate lyase (substance) [SNOMED CT concept]
- Adenylosuccinate lyase deficiency [MedDRA Preferred Term]
- adenylosuccinate lyase [MeSH Descriptor]
Currated CISMeF NLP mapping
- Adenylosuccinase deficiency [OMIM Phenotype]
- Adenylosuccinate lyase deficiency [ORDO Disease]
- Adenylosuccinate lyase deficiency [MeSH concept]
- Adenylosuccinate lyase deficiency (disorder) [SNOMED CT concept]
- adenylosuccinate lyase deficiency [SNOMED Notion]
- adenylosuccinate lyase deficiency [MeSH Supplementary Concept]
- adenylosuccinate lyase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenylosuccinase deficiency [OMIM Phenotype]
- Adenylosuccinate lyase deficiency [MeSH concept]
- Adenylosuccinate lyase deficiency [ORDO Disease]
- Adenylosuccinate lyase deficiency [MedDRA Preferred Term]
- Adenylosuccinate lyase deficiency (disorder) [SNOMED CT concept]
- adenylosuccinate lyase deficiency [MeSH Supplementary Concept]
- adenylosuccinate lyase deficiency [Disease (Nov.)]
- adenylosuccinate lyase deficiency [SNOMED Notion]

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