Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323085014 | Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323086010 | Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323087018 | ATRUS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6372391000146118 | ATRUS-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7003061000146114 | syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7003071000146115 | syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3323088011 | Syndrome with the association of proximal fusion of the radius and ulna and 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). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Radioulnar synostosis | false | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Inherited platelet disorder | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Amegakaryocytic thrombocytopenia with congenital malformation | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Has definitional manifestation | Platelet count below reference range (finding) | false | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Interprets | Platelet count | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Associated morphology | congenitale afwijkende fusie | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Finding site | Structure of bone of forearm (body structure) | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Platelet count below reference range (finding) | false | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Associated morphology | congenitale afwijkende fusie | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Finding site | Structure of bone of forearm (body structure) | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Interprets | Hemostatic function | false | Inferred relationship | Some | 2 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Functional finding | false | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Has interpretation | Abnormal | false | Inferred relationship | Some | 2 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Interprets | Hemostatic function | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Finding site | Bone structure of radius (body structure) | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Associated morphology | congenitale afwijkende fusie | false | Inferred relationship | Some | 3 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Finding site | Bone structure of ulna | false | Inferred relationship | Some | 3 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | Congenital radioulnar synostosis | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Finding site | Bone structure of ulna | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Finding site | Bone structure of radius (body structure) | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Is a | congenitale trombocytopenie | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets