OMOP Concept 4050165
Deficiency of acetyl-CoA acetyltransferase
StandardConditionSNOMED124258007Disorder
Maps from
2
Descendants
2
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Deficiency of acetyl-CoA acetyltransferase via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 142724 | Deficiency of Acetyl-Coa Acetyltransferase | Non-standard |
| MeSH | C535434 | Beta ketothiolase deficiency | Non-standard |
Synonyms
Alternative names recorded for Deficiency of acetyl-CoA acetyltransferase across source vocabularies.
- 3-Ketothiolase deficiency
- 3-Methylhydroxybutyric acidaemia
- 3-Methylhydroxybutyric acidemia
- 3-oxothiolase deficiency
- Acetoacetyl-CoA thiolase deficiency
- acidemia 3-metilhidroxibutírica
- aciduria alfa-metilacetoacética
- alpha-Methylacetoacetic aciduria
- Alpha-methyl-acetoacetyl-CoA thiolase deficiency
- Beta-ketothiolase deficiency disorder
- deficiencia de 3-cetotiolasa
- deficiencia de 3-oxotiolasa
- deficiencia de acetil - CoA acetiltransferasa
- deficiencia de acetil - CoA acetiltransferasa (trastorno)
- deficiencia de acetoacetil - CoA tiolasa
- Deficiency of acetoacetyl-CoA thiolase
- Deficiency of acetyl-coenzyme A acetyltransferase
- Deficiency of acetyl-coenzyme A acetyltransferase (disorder)
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated
- Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Deficiency of transferase
- 1Disorder of branched-chain amino acid metabolism
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Specific enzyme deficiency
- 3Disorder of amino acid metabolism
- 3Enzymopathy
- 3Hereditary disease
- 4Disorder of organic acid metabolism
- 4Genetic disease
- 4Metabolic disease
- 5Disease
- 6Clinical finding
Narrower concepts
(2)Included automatically when you query with descendants.
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