HMG-CoA Lyase Deficiency

Preferred Label : HMG-CoA Lyase Deficiency;

NCIt synonyms : 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency; 3-OH 3-Methyl Glutaric Aciduria;

NCIt related terms : Hydroxymethylglutaryl-CoA Lyase Deficiency; Deficiency of Hydroxymethylglutaryl-CoA Lyase; Hydroxymethylglutaric Aciduria;

NCIt definition : A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma.;

Details

Origin ID

C84523;

UMLS CUI

C0268601;

Automatic exact mappings (from CISMeF team)
- Hydroxymethylglutaric aciduria (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH concept]
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH Supplementary Concept]
- 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency [MeSH Supplementary Concept]
- 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 [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.)]
- hydroxymethylglutaryl-coa lyase deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH Supplementary Concept]
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH 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.)]
- Hydroxymethylglutaryl CoA lyase deficiency [LOINC component]
- hydroxymethylglutaryl-coa lyase deficiency [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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