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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency

\Procedure related finding\Evaluation finding\...

\Finding of cellular component of blood (finding)\Red blood cell finding (finding)\Erythrocytosis\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency

\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count above reference range\Erythrocytosis\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range (finding)\Red blood cell count above reference range\Erythrocytosis\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count above reference range\Erythrocytosis\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency

\Haematopoietic system finding\Red blood cell finding (finding)\Erythrocytosis\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Familial erythrocytosis due to diphosphoglycerate mutase deficiency

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

353012 Familial erythrocytosis due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

731107016 Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

353012 Familial erythrocytosis due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

353012 Familial erythrocytosis due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

731107016 Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

731107016 Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6231051000241114 érythrocytose familiale due à un déficit en diphosphoglycérate mutase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6231051000241114 érythrocytose familiale due à un déficit en diphosphoglycérate mutase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Is a	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Associated etiologic finding	Deficiency of bisphosphoglycerate mutase	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Due to	Deficiency of bisphosphoglycerate mutase	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Has definitional manifestation	Red blood cell count above reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Interprets	Hematology procedure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
353012	Familial erythrocytosis due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731107016	Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
353012	Familial erythrocytosis due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
353012	Familial erythrocytosis due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731107016	Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
731107016	Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6231051000241114	érythrocytose familiale due à un déficit en diphosphoglycérate mutase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6231051000241114	érythrocytose familiale due à un déficit en diphosphoglycérate mutase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module