OMOP Concept 4261869
Hydroxymethylglutaric aciduria
StandardConditionSNOMED410059004Disorder
Maps from
3
Descendants
0
Valid from
31 Jul 2004
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Hydroxymethylglutaric aciduria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 138349 | Hydroxymethylglutaric Aciduria | Non-standard |
| CIEL | 142706 | Deficiency of hydroxymethylglutaryl-CoA lyase | Non-standard |
| MeSH | C538324 | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | Non-standard |
Synonyms
Alternative names recorded for Hydroxymethylglutaric aciduria across source vocabularies.
- 3-hydroxy-3-methylglutaric aciduria
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- aciduria 3-hidroxi-3-metilglutárica
- aciduria por deficiencia de hidroximetilglutaril-CoA-liasa
- aciduria por deficiencia de hidroximetilglutaril-CoA-liasa (trastorno)
- deficiencia de HMG-CoA liasa
- HMG-CoA lyase deficiency
- Hydroxymethylglutaric aciduria (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Clinical manifestation of enzyme deficiency
- 1Fatty acid oxidation defect
- 1Non-amino organic acidemia AND/OR aciduria
- 2Autosomal recessive hereditary disorder
- 2Disorder of fatty acid metabolism
- 2Disorder of organic acid metabolism
- 2Metabolic disease
- 3Autosomal hereditary disorder
- 3Disease
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Inborn error of metabolism
- 4Clinical finding
- 4Congenital disease
- 4Hereditary disease
- 4Hereditary metabolic disease
- 5Fetal and/or neonatal disorder
- 5Genetic disease
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