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124678007: Deficiency of bisphosphoglycerate mutase (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
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


0 descendants.

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

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