Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3437135011 | Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437136012 | Familial platelet syndrome with predisposition to acute myelogenous leukemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437137015 | Familial platelet syndrome with predisposition to acute myelogenous leukaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437138013 | Familial platelet disorder with associated myeloid malignancy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437139017 | Disease that is characterized by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukemia. The prevalence is unknown but the disease has been reported in less than 20 families. Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families. The condition is inherited as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3437140015 | Disease that is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukaemia. The prevalence is unknown but the disease has been reported in less than 20 families. Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families. The condition is inherited as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | Is a | Dense body defect | true | Inferred relationship | Some | ||
| Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | Finding site | Structure of hematological system (body structure) | false | Inferred relationship | Some | 1 | |
| Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | Has interpretation | Abnormal | false | Inferred relationship | Some | 2 | |
| Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | Interprets | Hemostatic function | true | Inferred relationship | Some | 2 | |
| Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | Finding site | Structure of hematological system (body structure) | true | Inferred relationship | Some | 1 | |
| Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR