124678007: Deficiency of bisphosphoglycerate mutase (disorder)

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

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

204933019 Deficiency of glycerate phosphomutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204934013 Deficiency of diphosphoglycerate mutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204935014 Deficiency of bisphosphoglycerate synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204936010 Deficiency of bisphosphoglycerate mutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728405015 Deficiency of bisphosphoglycerate mutase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

937541000052111 brist på bifosfoglyceratmutas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of bisphosphoglycerate mutase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of bisphosphoglycerate mutase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to diphosphoglycerate mutase deficiency	Is a	False	Deficiency of bisphosphoglycerate mutase	Inferred relationship	Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Associated etiologic finding	False	Deficiency of bisphosphoglycerate mutase	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Associated etiologic finding	False	Deficiency of bisphosphoglycerate mutase	Inferred relationship	Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Due to	True	Deficiency of bisphosphoglycerate mutase	Inferred relationship	Some	2
HNSHA due to diphosphoglycerate mutase deficiency	Due to	True	Deficiency of bisphosphoglycerate mutase	Inferred relationship	Some	5

This concept is not in any reference sets