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


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

Descriptions:

Id Description Lang Type Status Case? Module
353012 Familial erythrocytosis due to diphosphoglycerate mutase deficiency en Synonym Active Case insensitive SNOMED CT core
731107016 Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core


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 haematopoietic 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 Associated etiologic finding Deficiency of bisphosphoglycerate mutase false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Finding site Haematopoietic system structure false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Due to Deficiency of bisphosphoglycerate mutase true Inferred relationship Some 2
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Has definitional manifestation RBC count raised false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Finding site Haematopoietic system structure false Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Finding site Erythrocyte true Inferred relationship Some 3
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Occurrence Congenital false 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
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Interprets Haematology procedure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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