124258007: Deficiency of acetyl-coenzyme A acetyltransferase (disorder)

• SNOMED CT Concept\Clinical finding\Disease\Metabolic disease\...
• \Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Deficiency of acetyl-coenzyme A acetyltransferase
• \Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of acetyl-coenzyme A acetyltransferase

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1220688012	Acetoacetyl-CoA thiolase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1784702014	3-Ketothiolase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
203870018	Deficiency of acetoacetyl-CoA thiolase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
203871019	Deficiency of acetyl-CoA acetyltransferase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2550674019	alpha-Methylacetoacetic aciduria	en	Synonym	Active	Case sensitive	SNOMED CT core
2550675018	3-Methylhydroxybutyric acidaemia	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2550676017	3-Methylhydroxybutyric acidemia	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2971184013	Deficiency of acetyl-coenzyme A acetyltransferase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2971772018	Deficiency of acetyl-coenzyme A acetyltransferase (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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