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17342003: Familial erythrocytosis (disorder)

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

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

\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis
\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis

\Procedure related finding\Evaluation finding\...

\Finding of cellular component of blood (finding)\Red blood cell finding\Erythrocytosis\Familial erythrocytosis

\Hematopoietic system finding\Red blood cell finding\Erythrocytosis\Familial erythrocytosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis
\Disease\Disorder of body system\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial erythrocytosis	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Familial erythrocytosis	Is a	Erythrocytosis	true	Inferred relationship	Some
Familial erythrocytosis	Finding site	Erythrocyte (cell)	true	Inferred relationship	Some	2
Familial erythrocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Familial erythrocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Familial erythrocytosis	Is a	Hereditary disease	false	Inferred relationship	Some
Familial erythrocytosis	Has definitional manifestation	Red blood cell count above reference range (finding)	false	Inferred relationship	Some
Familial erythrocytosis	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some
Familial erythrocytosis	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Familial erythrocytosis	Interprets	Hematology procedure	true	Inferred relationship	Some	3
Familial erythrocytosis	Interprets	Red blood cell count	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial erythrocytosis due to diphosphoglycerate mutase deficiency	Is a	True	Familial erythrocytosis	Inferred relationship	Some
Familial polycythemia vera	Is a	True	Familial erythrocytosis	Inferred relationship	Some
High oxygen affinity haemoglobin polycythaemia	Is a	True	Familial erythrocytosis	Inferred relationship	Some
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.	Is a	True	Familial erythrocytosis	Inferred relationship	Some
A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.	Is a	True	Familial erythrocytosis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
29310019	Hereditary pure erythrocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
29313017	Familial polycythemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
29315012	Familial erythrocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
478114012	Familial polycythaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
744529012	Familial erythrocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
67031000077112	erythrocytose familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2390051000195119	PFCP - primary familial and congenital polycythemia	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2390061000195116	Primäre familiäre und kongenitale Polyzythämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2390071000195110	Familiäre Erythrozytose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2390081000195112	Kongenitale primäre Erythrozytose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2390091000195114	Familiäre primäre Polyzythämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2390101000195119	Familiäre Polyzythämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3437771001000112	Polyzythämie, familiäre primäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module