Status: retired, Primitive. 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 | Case insensitive | SNOMED CT core |
| 3311461015 | Inherited predisposition to essential thrombocythemia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3311462010 | Inherited predisposition to essential thrombocythaemia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3311463017 | Familial essential thrombocythemia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3311464011 | Familial essential thrombocythaemia | en | Synonym | Active | Case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Inherited predisposition to essential thrombocythaemia | Associated morphology | Essential thrombocythaemia | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythaemia | Associated morphology | Malignant haematopoietic neoplasm | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythaemia | Is a | Hereditary disease | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythaemia | Is a | Essential thrombocythaemia | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythaemia | Has definitional manifestation | Platelet count above reference range | false | Inferred relationship | Some | ||
| Inherited predisposition to essential thrombocythaemia | Interprets | Platelet count | false | Inferred relationship | Some | 1 | |
| Inherited predisposition to essential thrombocythaemia | 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
FHIR