28987007: Glutaric aciduria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\...

\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Glutaric aciduria

\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria

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

48531019 Glutaric aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

759728010 Glutaric aciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

48531019 Glutaric aciduria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

48531019 Glutaric aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

759728010 Glutaric aciduria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

759728010 Glutaric aciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4483201000241118 glucoacidurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4483201000241118 glucoacidurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutaric aciduria	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaric aciduria	Is a	Non-amino organic acidemia AND/OR aciduria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaric aciduria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaric aciduria	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
D-2(OH) glutaric aciduria	Is a	False	Glutaric aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
L-2(OH) glutaric aciduria	Is a	False	Glutaric aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaric aciduria, type 2	Is a	True	Glutaric aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
acidurie glutarique de type 1	Is a	False	Glutaric aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
Dystonia due to glutaric acidemia (disorder)	Due to	True	Glutaric aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glutaryl-CoA dehydrogenase deficiency	Is a	True	Glutaric aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets