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 |
757731000241119 | syndrome de synostose radio-ulnaire-thrombocytopénie amégacaryocytique (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
935171000172112 | syndrome de synostose radio-ulnaire-thrombocytopénie amégacaryocytique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
973251000172111 | syndrome ATRUS (radio-ulnar synostosis, amegakaryocytic thrombocytopenia) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of bone of forearm (body structure) | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | interprète (attribut) | Hemostatic function (observable entity) | false | Inferred relationship | Some | 2 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est un(e) (attribut) | constatation fonctionnelle | false | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | a pour interprétation (attribut) | anormal | false | Inferred relationship | Some | 2 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | interprète (attribut) | Hemostatic function (observable entity) | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | localisation d'une constatation (attribut) | radius (structure corporelle) | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | localisation d'une constatation (attribut) | ulna | true | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est un(e) (attribut) | Radioulnar synostosis | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est un(e) (attribut) | anomalie plaquettaire héréditaire | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est un(e) (attribut) | thrombocytopénie amégacaryocytique avec malformation congénitale | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est défini par la manifestation de (attribut) | Platelet count below reference range (finding) | false | Inferred relationship | Some | ||
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | interprète (attribut) | Platelet count | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of bone of forearm (body structure) | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | est un(e) (attribut) | Platelet count below reference range (finding) | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets