3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency

Preferred Label : 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency;

MeSH note : mutation in HMGCS2;

MeSH synonym : HMGCS2 deficiency; mitochondrial HMG-CoA synthase deficiency;

Details

Origin ID

C567784;

UMLS CUI

C2751532;

Currated CISMeF NLP mapping
- 3-hydroxy 3-methylglutaryl-CoA lyase deficiency [ICD-11 More detail]
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [ORDO Disease]
- 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 [SNOMED Notion]
MeSH term(s) associated for indexing
- Hydroxymethylglutaryl-CoA synthase [MeSH Descriptor]
- hypoglycemia [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
Record concept(s)
- 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [ORDO Disease]
- 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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