770407006: Chuvash erythrocytosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Finding of cellular component of blood\Red blood cell finding\Erythrocytosis\Familial erythrocytosis\Chuvash erythrocytosis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count raised\Erythrocytosis\Familial erythrocytosis\Chuvash erythrocytosis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range\RBC count raised\Erythrocytosis\Familial erythrocytosis\Chuvash erythrocytosis
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count raised\Erythrocytosis\Familial erythrocytosis\Chuvash erythrocytosis
\Evaluation finding\Haematopoietic system finding\Red blood cell finding\Erythrocytosis\Familial erythrocytosis\Chuvash erythrocytosis

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial erythrocytosis\Chuvash erythrocytosis

\Red blood cell disorder\Hereditary red blood cell disorder\Familial erythrocytosis\Chuvash erythrocytosis
\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Chuvash erythrocytosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial erythrocytosis\Chuvash erythrocytosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chuvash erythrocytosis
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial erythrocytosis\Chuvash erythrocytosis
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Familial erythrocytosis\Chuvash erythrocytosis
\Disease\Blood disease\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Chuvash erythrocytosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial erythrocytosis\Chuvash erythrocytosis
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Familial erythrocytosis\Chuvash erythrocytosis
\Disease\Disorder of body system\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Chuvash erythrocytosis
\Disease\Congenital disease\Chuvash erythrocytosis

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3700721010 Chuvash polycythemia en Synonym Active Case sensitive SNOMED CT core

3700722015 Chuvash polycythaemia en Synonym Active Case sensitive SNOMED CT core

3700723013 Chuvash erythrocytosis en Synonym Active Case sensitive SNOMED CT core

3700724019 Von Hippel Lindau dependent polycythaemia en Synonym Active Case sensitive SNOMED CT core

3700725018 Von Hippel Lindau dependent polycythemia en Synonym Active Case sensitive SNOMED CT core

3700726017 Chuvash erythrocytosis (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3700727014 A rare genetic congenital secondary polycythaemia disorder characterised by increased haemoglobin, haematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnoea and/or plethora. Patients present an increased risk of haemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. en Definition Active Case sensitive SNOMED CT core

3700728016 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. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chuvash erythrocytosis	Interprets	Haematology procedure	true	Inferred relationship	Some	3
Chuvash erythrocytosis	Is a	Congenital disease	true	Inferred relationship	Some
Chuvash erythrocytosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Chuvash erythrocytosis	Is a	Familial erythrocytosis	true	Inferred relationship	Some
Chuvash erythrocytosis	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Chuvash erythrocytosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Chuvash erythrocytosis	Finding site	Erythrocyte	true	Inferred relationship	Some	2
Chuvash erythrocytosis	Has interpretation	Above reference range	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3700721010	Chuvash polycythemia	en	Synonym	Active	Case sensitive	SNOMED CT core
3700722015	Chuvash polycythaemia	en	Synonym	Active	Case sensitive	SNOMED CT core
3700723013	Chuvash erythrocytosis	en	Synonym	Active	Case sensitive	SNOMED CT core
3700724019	Von Hippel Lindau dependent polycythaemia	en	Synonym	Active	Case sensitive	SNOMED CT core
3700725018	Von Hippel Lindau dependent polycythemia	en	Synonym	Active	Case sensitive	SNOMED CT core
3700726017	Chuvash erythrocytosis (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3700727014	A rare genetic congenital secondary polycythaemia disorder characterised by increased haemoglobin, haematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnoea and/or plethora. Patients present an increased risk of haemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25.	en	Definition	Active	Case sensitive	SNOMED CT core
3700728016	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. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25.	en	Definition	Active	Case sensitive	SNOMED CT core