Glutaric acidemia type 1

Preferred Label : Glutaric acidemia type 1;

LOINC status : ACTIVE;

Synonyme UMLS : GA I; Glutaric aciduria type I; Glutaryl-CoA dehydrogenase deficiency; Glutaric aciduria, type 1;

UMLS MTHU# : MTHU021574;

Details

Origin ID

LP56741-9;

UMLS CUI

C0268595;

Automatic exact mappings (from CISMeF team)
- Disorders of lysine and hydroxylysine metabolism [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Glutaric Acidemia I [MeSH Supplementary Concept]
- Glutaric Acidemia I [MeSH concept]
- Glutaric Acidemia Type 1 [NCIt concept]
- Glutaric acidemia I [OMIM Phenotype]
- 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]
LOINC code(s)
- Glutaric acidemia type 1:Imp:Pt:Bld.dot:Nom: [LOINC code]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutaric Acidemia I [MeSH Supplementary Concept]
- Glutaric Acidemia I [MeSH concept]
- Glutaric Acidemia Type 1 [NCIt concept]
- Glutaric acidaemia type I [MedDRA Preferred Term]
- Glutaric acidemia I [OMIM Phenotype]
- 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]

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