22886006: Glutaric aciduria, type 2 (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutaric aciduria, type 2

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Glutaric aciduria\Glutaric aciduria, type 2
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2
\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria\Glutaric aciduria, type 2
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2

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

38413019 Glutaric aciduria, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

38414013 Ethylmalonic-adipicaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

38417018 Glutaric acidemia, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

481457011 Glutaric aciduria type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

481458018 MAD - Multiple acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

481460016 Glutaric acidaemia, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

752344016 Glutaric aciduria, type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4637156012 MADD - multiple acyl-CoA 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
Glutaric aciduria, type 2	Is a	Disorder of fatty acid metabolism	true	Inferred relationship	Some
Glutaric aciduria, type 2	Is a	Glutaric aciduria	true	Inferred relationship	Some
Glutaric aciduria, type 2	Finding site	Body system structure	false	Inferred relationship	Some
Glutaric aciduria, type 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Glutaric aciduria, type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked glutaric aciduria, type 2	Is a	False	Glutaric aciduria, type 2	Inferred relationship	Some
Autosomal recessive glutaric aciduria, type 2	Is a	False	Glutaric aciduria, type 2	Inferred relationship	Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	False	Glutaric aciduria, type 2	Inferred relationship	Some
Beta chain electron transfer flavoprotein deficiency (disorder)	Is a	True	Glutaric aciduria, type 2	Inferred relationship	Some
Alpha chain electron transfer flavoprotein deficiency	Is a	True	Glutaric aciduria, type 2	Inferred relationship	Some
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency	Is a	True	Glutaric aciduria, type 2	Inferred relationship	Some

This concept is not in any reference sets