Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
473350011 | Amegakaryocytic thrombocytopenia with congenital malformation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
728070016 | Amegakaryocytic thrombocytopenia with congenital malformation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
132561000077112 | thrombocytopénie amégacaryocytique avec malformation congénitale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Amegakaryocytic thrombocytopenia with congenital malformation | Is a | Thrombocytopenia due to defective platelet production | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Finding site | Platelet | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Finding site | Hematopoietic system structure | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Associated etiologic finding | Abnormal platelet production | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Finding site | Hematopoietic system structure | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Is a | Congenital anomaly of the hematopoietic system | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Due to | Abnormal platelet production | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Occurrence | Congenital | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Is a | Congenital disease | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Has definitional manifestation | Platelet count below reference range (finding) | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Has definitional manifestation | Hemostatic system finding | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Amegakaryocytic thrombocytopenia with congenital malformation | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 1 | |
Amegakaryocytic thrombocytopenia with congenital malformation | Is a | Congenital malformation | false | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Is a | Amegakaryocytic thrombocytopenia | true | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
Amegakaryocytic thrombocytopenia with congenital malformation | Interprets | Platelet count | true | Inferred relationship | Some | 2 | |
Amegakaryocytic thrombocytopenia with congenital malformation | Is a | Congenital thrombocytopenia (disorder) | true | Inferred relationship | Some | ||
Amegakaryocytic thrombocytopenia with congenital malformation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Amegakaryocytic thrombocytopenia with congenital malformation | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Amegakaryocytic thrombocytopenia with congenital malformation | Interprets | Hemostatic function | true | Inferred relationship | Some | 3 | |
Amegakaryocytic thrombocytopenia with congenital malformation | Has interpretation | Abnormal | true | Inferred relationship | Some | 3 | |
Amegakaryocytic thrombocytopenia with congenital malformation | Is a | Congenital malformation syndrome (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). | Is a | True | Amegakaryocytic thrombocytopenia with congenital malformation | Inferred relationship | Some |
Reference Sets