124706000: Deficiency of glutathione synthase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of glutathione synthase

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

205012019 Deficiency of glutathione synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

205013012 Deficiency of glutathione synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728437019 Deficiency of glutathione synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

205012019 Deficiency of glutathione synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

205012019 Deficiency of glutathione synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

205013012 Deficiency of glutathione synthase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

205013012 Deficiency of glutathione synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728437019 Deficiency of glutathione synthase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728437019 Deficiency of glutathione synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4777261000241111 déficit en glutathione synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4777261000241111 déficit en glutathione synthase 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
Deficiency of glutathione synthase	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of glutathione synthase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glutathione synthase deficiency without 5-oxoprolinuria	Is a	False	Deficiency of glutathione synthase	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	False	Deficiency of glutathione synthase	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Associated etiologic finding	False	Deficiency of glutathione synthase	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Due to	True	Deficiency of glutathione synthase	Inferred relationship	Existential restriction modifier (core metadata concept)	5

This concept is not in any reference sets