adenylosuccinate lyase deficiency

Preferred Label : adenylosuccinate lyase deficiency;

CISMeF synonym : adenylosuccinate lyase deficiency type 1; adenylosuccinate lyase deficiency type 2; adenylosuccinate lyase deficiency type 3; adenylosuccinate lyase deficiency type 4;

MeSH synonym : succinylpurinemic autism; adenylosuccinase deficiency; ADSL deficiency;

Details

Origin ID

C538235;

UMLS CUI

C0268126;

Automatic exact mappings (from CISMeF team)
- Adenylosuccinate lyase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Adenylosuccinase deficiency [OMIM Phenotype]
- Adenylosuccinate lyase deficiency [ICD-11 More detail]
- Adenylosuccinate lyase deficiency [ORDO Disease]
- Adenylosuccinate lyase deficiency (disorder) [SNOMED CT concept]
- adenylosuccinate lyase deficiency [Disease (Nov.)]
- adenylosuccinate lyase deficiency [SNOMED Notion]
MeSH term(s) associated for indexing
- adenylosuccinate lyase [MeSH Descriptor]
- autistic disorder [MeSH Descriptor]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Adenylosuccinate lyase deficiency [ORDO Disease]
Record concept(s)
- Adenylosuccinate lyase deficiency [MeSH concept]
- Adenylosuccinate lyase deficiency type 1 [MeSH concept]
- Adenylosuccinate lyase deficiency type 2 [MeSH concept]
- Adenylosuccinate lyase deficiency type 3 [MeSH concept]
- Adenylosuccinate lyase deficiency type 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenylosuccinase deficiency [OMIM Phenotype]
- Adenylosuccinate lyase deficiency [ORDO Disease]
- Adenylosuccinate lyase deficiency [ICD-11 More detail]
- Adenylosuccinate lyase deficiency [MedDRA Preferred Term]
- Adenylosuccinate lyase deficiency (disorder) [SNOMED CT concept]
- adenylosuccinate lyase deficiency [SNOMED Notion]
- adenylosuccinate lyase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

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