725286002: Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\HMG-CoA synthase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\HMG-CoA synthase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\HMG-CoA synthase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\HMG-CoA synthase deficiency
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\HMG-CoA synthase deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\HMG-CoA synthase deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\HMG-CoA synthase deficiency

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2070251000168113	HMG-CoA synthase deficiency	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
3440703015	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3440704014	3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3440705010	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3440706011	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3440707019	HMG-coenzyme A synthase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3440708012	A rare autosomal recessively inherited disorder of ketone body metabolism, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12.	en	Definition	Active	Case sensitive	SNOMED CT core
3440709016	A rare autosomal recessively inherited disorder of ketone body metabolism, characterised clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycaemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycaemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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