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

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3440703015	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3440704014	3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3440705010	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3440706011	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3440707019	HMG-coenzyme A synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403438017	3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, 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. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403439013	3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, 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. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycaemic crises that can lead to permanent brain damage or death.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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