360416003: Glutaryl-coenzyme A dehydrogenase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Glutaryl-CoA dehydrogenase deficiency

\Inborn error of amino acid metabolism\Glutaryl-CoA dehydrogenase deficiency

\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Glutaryl-CoA dehydrogenase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutaryl-CoA dehydrogenase deficiency

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Glutaryl-CoA dehydrogenase deficiency

\Inborn error of amino acid metabolism\Glutaryl-CoA dehydrogenase deficiency

\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Glutaryl-CoA dehydrogenase deficiency
\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Glutaryl-CoA dehydrogenase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Glutaryl-CoA dehydrogenase deficiency
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Glutaryl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of lysine and hydroxylysine metabolism (disorder)\Glutaryl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Inborn error of amino acid metabolism\Glutaryl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Glutaric aciduria\Glutaryl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of lysine AND/OR hydroxylysine metabolism\Disorder of lysine and hydroxylysine metabolism (disorder)\Glutaryl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria\Glutaryl-CoA dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutaryl-CoA dehydrogenase deficiency	Is a	Disorder of lysine and hydroxylysine metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Is a	Glutaric aciduria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Is a	Inborn error of amino acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glutaryl-CoA dehydrogenase deficiency	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
476189017	Glutaryl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971285016	Glutaryl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971448010	Glutaryl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5316184015	Glutaric acidaemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5316185019	Glutaric acidemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5316186018	Glutaric aciduria type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5316187010	GA I - glutaric aciduria type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5316188017	GCDH-gene related glutaryl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
476189017	Glutaryl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
740214018	Glutaryl-CoA dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971285016	Glutaryl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971448010	Glutaryl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5316184015	Glutaric acidaemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5316185019	Glutaric acidemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5316186018	Glutaric aciduria type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5316187010	GA I - glutaric aciduria type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5316188017	GCDH-gene related glutaryl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3396431001000116	Glutaryl-CoA-Dehydrogenase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5225701000241112	déficit en glutaryl-CoA déshydrogénase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5225701000241112	déficit en glutaryl-CoA déshydrogénase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396431001000116	Glutaryl-CoA-Dehydrogenase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module