76175005: Glutaric aciduria, type 1 (disorder)

SNOMED CT Concept\Clinical finding\Disease\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 1

\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria\Glutaric aciduria, type 1

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

Descriptions:

Id Description Lang Type Status Case? Module

126511019 Glutaric aciduria, type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

126512014 Glutaric acidemia, type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

126513016 GA I en Synonym Active Entire term case sensitive SNOMED CT core module

503216015 Glutaric aciduria type I en Synonym Active Only initial character case insensitive SNOMED CT core module

503217012 Glutaric acidaemia, type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

816866016 Glutaric aciduria, type 1 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutaric aciduria, type 1	Is a	Glutaric aciduria	true	Inferred relationship	Existential restriction modifier
Glutaric aciduria, type 1	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Glutaric aciduria, type 1	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Blood spot glutaric aciduria type 1 screening test	Has focus	True	Glutaric aciduria, type 1	Inferred relationship	Existential restriction modifier	3
Glutaric aciduria type 1 not suspected	Associated finding	True	Glutaric aciduria, type 1	Inferred relationship	Existential restriction modifier	1
Suspected glutaric aciduria type 1	Associated finding	True	Glutaric aciduria, type 1	Inferred relationship	Existential restriction modifier	1
Glutaric aciduria type 1 not suspected and other disorders follow up required	Associated finding	True	Glutaric aciduria, type 1	Inferred relationship	Existential restriction modifier	1

This concept is not in any reference sets