Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311460019 | Inherited predisposition to essential thrombocythemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311461015 | Inherited predisposition to essential thrombocythemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311462010 | Inherited predisposition to essential thrombocythaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311463017 | Familial essential thrombocythemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311464011 | Familial essential thrombocythaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311465012 | A familial form of essential thrombocythemia, a myeloproliferative disorder characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. Patients commonly manifest microcirculatory disturbances or vaso-motor events. The disease is less frequently associated with an increased risk of hemorrhage, mild splenomegaly, and progression towards myelofibrosis with myeloid metaplasia or transformation to leukemia. The genetic cause of the inherited predisposition is not known. Transmission appears to be autosomal dominant with incomplete penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3311466013 | A familial form of essential thrombocythaemia, a myeloproliferative disorder characterised by a sustained elevation of platelet number with a tendency for thrombosis and haemorrhage. Patients commonly manifest microcirculatory disturbances or vaso-motor events. The disease is less frequently associated with an increased risk of haemorrhage, mild splenomegaly, and progression towards myelofibrosis with myeloid metaplasia or transformation to leukaemia. The genetic cause of the inherited predisposition is not known. Transmission appears to be autosomal dominant with incomplete penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Inherited predisposition to essential thrombocythemia | Associated morphology | Essential thrombocythemia | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythemia | Associated morphology | Malignant hematopoietic neoplasm (morphologic abnormality) | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythemia | Is a | Hereditary disease | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythemia | Is a | Essential thrombocythemia (disorder) | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythemia | Has definitional manifestation | Platelet count above reference range (finding) | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythemia | Interprets | Platelet count | false | Inferred relationship | Some | 1 | |
| Inherited predisposition to essential thrombocythemia | Has interpretation | Above reference range | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR