OMOP Concept 45617463

Beta ketothiolase deficiency

Non-standardConditionMeSHC535434Suppl Concept

Maps from

Descendants

Valid from

1 Jan 1970

Valid to

31 Dec 2099

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Maps to standard concept

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Deficiency of acetyl-CoA acetyltransferaseStandardSNOMED124258007

Synonyms

Alternative names recorded for Beta ketothiolase deficiency across source vocabularies.

2-Alpha-Methyl-3-Hydroxybutyricacidemia
2-methyl-3-hydroxybutyricacidemia
2-Methyl-3-Hydroxybutyric Acidemia
3-Alpha-Ketothiolase Deficiency
3-Alpha-Ktd Deficiency
3-Alpha-Oxothiolase Deficiency
3-ketothiolase deficiency
3-Methylhydroxybutyric Acidemia
3-oxothiolase deficiency
Alpha-methylacetoaceticaciduria
Alpha-Methylacetoacetic Aciduria
Beta-Ketothiolase Deficiency
B-Ketothiolase Deficiency
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated
Mitochondrial Acetoacetyl-CoA Thiolase deficiency
T2 Deficiency

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