Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3760319012 | External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3760320018 | External auditory canal atresia, vertical talus, hypertelorism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3760321019 | Rasmussen Johnsen Thomsen syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
8680151000146115 | syndroom van atresie van uitwendige gehoorgang, verticaal sprongbeen en hypertelorisme | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
8680161000146117 | syndroom van atresie van meatus acusticus externus, verticale talus en hypertelorisme | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
8680171000146111 | syndroom van atresie van uitwendige gehoorgang, verticaal sprongbeen en hypertelorisme (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
9122841000146116 | syndroom van Rasmussen-Johnsen-Thomsen | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3760324010 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Associated morphology | atresie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Congenital deformity of foot and ankle | false | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Finding site | Sphenoid bone structure | true | Inferred relationship | Some | 2 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Hypertelorism | true | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Finding site | External auditory canal structure | true | Inferred relationship | Some | 3 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Congenital valgus deformity of foot | false | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Congenital vertical talus | true | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Congenital atresia of external auditory canal | true | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Finding site | Ankle region structure | true | Inferred relationship | Some | 4 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Associated morphology | Deformity | true | Inferred relationship | Some | 4 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Finding site | Foot structure | true | Inferred relationship | Some | 1 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Associated morphology | Valgus deformity | true | Inferred relationship | Some | 1 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Congenital anomaly of bone and joint | true | Inferred relationship | Some | ||
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Associated morphology | Dorsal dislocation | true | Inferred relationship | Some | 5 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Finding site | Structure of talonavicular joint (body structure) | true | Inferred relationship | Some | 5 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Finding site | Structure of longitudinal arch of foot | true | Inferred relationship | Some | 6 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Associated morphology | Flattening deformity | true | Inferred relationship | Some | 6 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) | Is a | Congenital talipes valgus (disorder) | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets