22886006: glutaaracidurie type 2 (aandoening)

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:

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-gebonden multipele acylco-enzym-A-dehydrogenasedeficiëntie	Is a	False	Glutaric aciduria, type 2	Inferred relationship	Some
autosomaal recessieve glutaaracidurie type II	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
Severe neonatal type of glutaric aciduria type 2	Is a	True	Glutaric aciduria, type 2	Inferred relationship	Some
Mild type of glutaric aciduria type 2	Is a	True	Glutaric aciduria, type 2	Inferred relationship	Some

This concept is not in any reference sets

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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
342821000146113	glutaaracidurie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
342831000146110	glutaaracidurie type 2 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13354581000146110	MADD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13354591000146112	multipele acyl-CoA-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13354601000146119	'multiple acyl-CoA dehydrogenase'-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)