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127065001: Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
353012 Familial erythrocytosis due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
731107016 Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a Familial erythrocytosis true Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a Congenital anomaly of the hematopoietic system false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a Enzymopathy false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a Inborn error of metabolism false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Finding site Hematopoietic system structure false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Finding site Erythrocyte true Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Occurrence Congenital false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Associated etiologic finding Deficiency of bisphosphoglycerate mutase false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Finding site Hematopoietic system structure false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Due to Deficiency of bisphosphoglycerate mutase true Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Has definitional manifestation Red blood cell count raised (finding) false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Interprets Hematology procedure true Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Interprets Red blood cell count true Inferred relationship Some 1
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Has interpretation Above reference range true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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