Glutaric Acidemia I

Preferred Label : Glutaric Acidemia I;

MeSH synonym : glutaric acidemia 1; Glutaryl-CoA dehydrogenase deficiency; glutaric aciduria I; glutaric acidemia type 1; glutaric acidemia type I; Glutaric aciduria 1;

Details

Origin ID

C536833;

UMLS CUI

C0268595;

CISMeF manual mappings
- Glutaryl-CoA dehydrogenase deficiency [ORDO Disease]
- glutaric aciduria, type 1 [SNOMED Notion]
Currated CISMeF NLP mapping
- Glutaric Acidemia Type 1 [NCIt concept]
- Glutaric acidemia I [OMIM Phenotype]
- Glutaric acidemia type 1 [LOINC component]
- Glutaric aciduria type 1 [ICD-11 More detail]
- Glutaric aciduria type I [PASCAL descriptor]
- Glutaric aciduria, type 1 (disorder) [SNOMED CT concept]
- Glutaryl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- glutaric acidemia I [DO Concept]
- glutaric aciduria type 1 [Disease (Nov.)]
DO Cross reference
- glutaric acidemia I [DO Concept]
MeSH term(s) associated for indexing
- Glutaryl-CoA dehydrogenase [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
- brain diseases, metabolic [MeSH Descriptor]
ORDO relation(s)
- Glutaryl-CoA dehydrogenase deficiency [ORDO Disease]
Record concept(s)
- Glutaric Acidemia I [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutaric Acidemia Type 1 [NCIt concept]
- Glutaric acidaemia type I [MedDRA Preferred Term]
- Glutaric acidemia I [OMIM Phenotype]
- Glutaric acidemia type 1 [LOINC component]
- Glutaric acidemia type I [MedDRA LLT]
- Glutaric aciduria type 1 [ICD-11 More detail]
- Glutaric aciduria type I [PASCAL descriptor]
- Glutaric aciduria, type 1 (disorder) [SNOMED CT concept]
- Glutaryl-CoA dehydrogenase deficiency [ORDO Disease]
- Glutaryl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- glutaric acidemia I [DO Concept]
- glutaric aciduria type 1 [Disease (Nov.)]
- glutaric aciduria, type 1 [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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