3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency

Preferred Label : 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency;

MeSH synonym : hydroxymethylglutaric aciduria; 3-hydroxy-3-methylglutaric aciduria; HMG-CoA lyase deficiency; HMG CoA lyase deficiency; 3-Hydroxy 3-Methyl glutaric aciduria; 3-Hydroxyl 3-Methyl glutaric aciduria; deficiency of Hydroxymethylglutaryl-CoA lyase; 3-Hydroxy-3-Methylglutaryl-Coenzyme A lyase deficiency;

Details

Origin ID

C538324;

UMLS CUI

C0268601;

CISMeF manual mappings
- hydroxymethylglutaryl-coa lyase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- 3-hydroxy 3-methylglutaryl-CoA lyase deficiency [ICD-11 More detail]
- 3-hydroxy-3 methylglutaryl-CoA lyase deficiency [PASCAL descriptor]
- 3-hydroxy-3-methylglutaric aciduria [ICD-11 More detail]
- 3-hydroxy-3-methylglutaric aciduria [ORDO Disease]
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [ORDO Disease]
- 3-hydroxy-3-methylglutaryl-coa lyase deficiency [OMIM Phenotype]
- 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency [OMIM Phenotype]
- Deficiency of hydroxymethylglutaryl-CoA lyase (disorder) [SNOMED CT concept]
- HMG CoA lyase deficiency [Disease (Nov.)]
- HMG-CoA Lyase Deficiency [NCIt concept]
- Hydroxymethylglutaryl CoA lyase deficiency [LOINC component]
MeSH term(s) associated for indexing
- Acetyl-CoA C-Acetyltransferase [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH concept]
See also (suggested by CISMeF)
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Hydroxymethylglutaric aciduria (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-hydroxy-3-methylglutaric aciduria [ORDO Disease]
- 3-hydroxy-3-methylglutaric aciduria [ICD-11 More detail]
- 3-hydroxy-3-methylglutaryl-coa lyase deficiency [OMIM Phenotype]
- Deficiency of hydroxymethylglutaryl-CoA lyase (disorder) [SNOMED CT concept]
- HMG CoA lyase deficiency [Disease (Nov.)]
- HMG-CoA Lyase Deficiency [NCIt concept]
- Hydroxymethylglutaryl CoA lyase deficiency [LOINC component]
- hydroxymethylglutaryl-coa lyase deficiency [SNOMED Notion]

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