124335006: Deficiency of phosphoglycerate kinase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of phosphoglycerate kinase (disorder)

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

204076019 Deficiency of phosphoglycerate kinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727980017 Deficiency of phosphoglycerate kinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

204076019 Deficiency of phosphoglycerate kinase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204076019 Deficiency of phosphoglycerate kinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727980017 Deficiency of phosphoglycerate kinase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

727980017 Deficiency of phosphoglycerate kinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4772521000241119 déficit en phosphoglycérate-kinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4772521000241119 déficit en phosphoglycérate-kinase 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 phosphoglycerate kinase (disorder)	Is a	Deficiency of transferase	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of phosphoglycerate kinase (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to phosphoglycerate kinase deficiency	Associated etiologic finding	False	Deficiency of phosphoglycerate kinase (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to phosphoglycerate kinase deficiency	Due to	True	Deficiency of phosphoglycerate kinase (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	5

This concept is not in any reference sets