Argininosuccinic Aciduria

Preferred Label : Argininosuccinic Aciduria;

NCIt related terms : Argininosuccinate Lyase Deficiency;

NCIt definition : A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation.;

Details

Origin ID

C84569;

UMLS CUI

C0268547;

Currated CISMeF NLP mapping
- Argininosuccinate lyase deficiency [MedDRA Preferred Term]
- Argininosuccinate lyase deficiency (disorder) [SNOMED CT concept]
- Argininosuccinic aciduria [ICD-11 Sub-sub category]
- Argininosuccinic aciduria [HPO term]
- Argininosuccinic aciduria [MedDRA LLT]
- Argininosuccinic aciduria [OMIM Phenotype]
- Argininosuccinic aciduria [ORDO Disease]
- argininosuccinate lyase deficiency [SNOMED Notion]
- argininosuccinic aciduria [DO Concept]
- argininosuccinic aciduria [Disease (Nov.)]
- argininosuccinic aciduria [Artificial nutrition thesaurus concept]
- argininosuccinic aciduria [MeSH Descriptor]
- argininosuccinic aciduria [MeSH concept]
DO Cross reference
- argininosuccinic aciduria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Argininosuccinate lyase deficiency [MedDRA Preferred Term]
- Argininosuccinate lyase deficiency (disorder) [SNOMED CT concept]
- Argininosuccinic aciduria [ORDO Disease]
- Argininosuccinic aciduria [OMIM Phenotype]
- Argininosuccinic aciduria [ICD-11 Sub-sub category]
- Argininosuccinic aciduria [HPO term]
- Argininosuccinic aciduria [MedDRA LLT]
- argininosuccinate lyase deficiency [SNOMED Notion]
- argininosuccinic aciduria [DO Concept]
- argininosuccinic aciduria [Disease (Nov.)]
- argininosuccinic aciduria [MeSH concept]
- argininosuccinic aciduria [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ASL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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