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 (disorder)\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)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)\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 (disorder)\Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\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

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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

10646591000172118 déficit en HMG-CoA (hydroxyméthylglutaryl-coenzyme A) synthase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10646601000172111 déficit en hydroxyméthylglutaryl-CoA synthase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10646611000172114 déficit en hydroxyméthylglutaryl-coenzyme A synthase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5236091000172118 deficiëntie van 3-hydroxy-3-methylglutaryl-co-enzym-A-synthase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5236101000172114 3-hydroxy-3-methylglutaryl-co-enzym-A-synthasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5236111000172112 HMG-CoA-synthasedeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5236121000172119 3-hydroxy-3-methylglutaryl-CoA-synthasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)	Is a	Disorder of fatty acid metabolism (disorder)	true	Inferred relationship	Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
10646591000172118	déficit en HMG-CoA (hydroxyméthylglutaryl-coenzyme A) synthase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10646601000172111	déficit en hydroxyméthylglutaryl-CoA synthase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10646611000172114	déficit en hydroxyméthylglutaryl-coenzyme A synthase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5236091000172118	deficiëntie van 3-hydroxy-3-methylglutaryl-co-enzym-A-synthase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5236101000172114	3-hydroxy-3-methylglutaryl-co-enzym-A-synthasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5236111000172112	HMG-CoA-synthasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5236121000172119	3-hydroxy-3-methylglutaryl-CoA-synthasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)