124335006: deficiëntie van fosfoglyceraatkinase (aandoening)

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

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

6887141000146119 fosfoglyceraatkinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6887161000146118 deficiëntie van fosfoglyceraatkinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7117921000146118 PGK-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7152261000146111 tekort aan PGK nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9127521000146110 deficiëntie van fosfoglyceraatkinase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of phosphoglycerate kinase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of phosphoglycerate kinase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to phosphoglycerate kinase deficiency	Associated etiologic finding	False	Deficiency of phosphoglycerate kinase	Inferred relationship	Some
HNSHA due to phosphoglycerate kinase deficiency	Due to	True	Deficiency of phosphoglycerate kinase	Inferred relationship	Some	5

This concept is not in any reference sets