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 |
5408658012 | A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by 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 |
5408659016 | A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by 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 |
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 |
6198881000241111 | syndrome d'atrésie du méat acoustique externe, talus vertical et hypertélorisme | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6198891000241113 | syndrome de Rasmussen-Johnsen-Thomsen | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6198901000241114 | syndrome d'atrésie du conduit auditif externe, pied en piolet et hypertélorisme | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3410631001000111 | Gehörgangsatresie-vertikaler Talus-Hypertelorismus-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 3 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Autosomal dominant hereditary disorder (disorder) | true | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Congenital deformity of foot and ankle | false | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Finding site | Sphenoid bone structure | true | Inferred relationship | Some | 2 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Hypertelorism | true | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Finding site | External auditory canal structure | true | Inferred relationship | Some | 3 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Congenital valgus deformity of foot | false | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Congenital vertical talus (disorder) | true | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Congenital atresia of external auditory canal | true | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Finding site | Ankle region structure | true | Inferred relationship | Some | 4 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Associated morphology | Deformity | true | Inferred relationship | Some | 4 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Finding site | Foot structure (body structure) | true | Inferred relationship | Some | 1 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Associated morphology | Valgus deformity (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Is a | Congenital anomaly of bone and joint | true | Inferred relationship | Some | ||
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Associated morphology | Dorsal dislocation | true | Inferred relationship | Some | 5 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Finding site | Structure of talonavicular joint (body structure) | true | Inferred relationship | Some | 5 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Finding site | Structure of longitudinal arch of foot | true | Inferred relationship | Some | 6 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Associated morphology | Flattening deformity | true | Inferred relationship | Some | 6 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)