Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404774017 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404775016 | Chuvash erythrocytosis is 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3700721010 | Chuvash polycythemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3700722015 | Chuvash polycythaemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3700723013 | Chuvash erythrocytosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3700724019 | Von Hippel Lindau dependent polycythaemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3700725018 | Von Hippel Lindau dependent polycythemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3700726017 | Chuvash erythrocytosis (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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. | Interprets | Hematology procedure | true | Inferred relationship | Some | 3 | |
| 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 | Congenital disease | true | 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 | Autosomal recessive hereditary disorder | true | 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 | Familial erythrocytosis | true | 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. | Interprets | Red blood cell count | true | Inferred relationship | Some | 1 | |
| 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. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 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. | Finding site | Erythrocyte | true | Inferred relationship | Some | 2 | |
| 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. | Has interpretation | Above reference range (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR