glutaric aciduria, type 1

Preferred Label : glutaric aciduria, type 1;

Details

Origin ID

D6-B2110;

UMLS CUI

C0268595;

CISMeF manual mappings
- Glutaric Acidemia I [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Glutaric Acidemia I [MeSH concept]
- 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-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.)]
ICD-10 exact mapping(s)
- Disorders of lysine and hydroxylysine metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Cerebral organic aciduria [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- glutaryl-coa dehydrogenase [SNOMED Notion]
SNOMED CT concept
- Glutaric aciduria, type 1 (disorder) [SNOMED CT concept]
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 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.)]

Keyword's position in hierarchy(ies) :

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