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:

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

1989081000005115 familiær erytrocytose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	true	Inferred relationship	Some	2
Familial erythrocytosis	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Familial erythrocytosis	Finding site	Haematopoietic 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 (qualifier value)	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 hemoglobin polycythemia	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 haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. 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