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

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

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

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Reference Sets

Description inactivation indicator reference set