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124678007: Deficiency of bisphosphoglycerate mutase (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

204933019 Deficiency of glycerate phosphomutase en Synonym Active Case insensitive SNOMED CT core

204934013 Deficiency of diphosphoglycerate mutase en Synonym Active Case insensitive SNOMED CT core

204935014 Deficiency of bisphosphoglycerate synthase en Synonym Active Case insensitive SNOMED CT core

204936010 Deficiency of bisphosphoglycerate mutase en Synonym Active Case insensitive SNOMED CT core

728405015 Deficiency of bisphosphoglycerate mutase (disorder) en Fully specified name Active Case insensitive SNOMED CT core

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

Reference Sets

Australian emergency department reference set

Id	Description	Lang	Type	Status	Case?	Module
204933019	Deficiency of glycerate phosphomutase	en	Synonym	Active	Case insensitive	SNOMED CT core
204934013	Deficiency of diphosphoglycerate mutase	en	Synonym	Active	Case insensitive	SNOMED CT core
204935014	Deficiency of bisphosphoglycerate synthase	en	Synonym	Active	Case insensitive	SNOMED CT core
204936010	Deficiency of bisphosphoglycerate mutase	en	Synonym	Active	Case insensitive	SNOMED CT core
728405015	Deficiency of bisphosphoglycerate mutase (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core