Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3425169017 | Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3425170016 | Syndactyly, telecanthus, anogenital and renal malformation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3425171017 | STAR (syndactyly, telecanthus, anogenital, renal malformation) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425172012 | STAR syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425173019 | Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | localisation d'une constatation (attribut) | Structure of palpebral fissure | true | Inferred relationship | Some | 2 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | localisation d'une constatation (attribut) | Structure of genitourinary system | true | Inferred relationship | Some | 3 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | localisation d'une constatation (attribut) | structure anale | true | Inferred relationship | Some | 1 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | Syndactyly of toes | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of eyelid | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | Anal atresia | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | Telecanthus | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | anomalies congénitales génito-urinaires | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | false | Inferred relationship | Some | 7 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | localisation d'une constatation (attribut) | orteil (structure corporelle) | false | Inferred relationship | Some | 7 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal fusion | true | Inferred relationship | Some | 4 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | localisation d'une constatation (attribut) | orteil (structure corporelle) | true | Inferred relationship | Some | 4 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | localisation d'une constatation (attribut) | structure anale | false | Inferred relationship | Some | 4 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | localisation d'une constatation (attribut) | Structure of genitourinary system | false | Inferred relationship | Some | 5 | |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | localisation d'une constatation (attribut) | Structure of palpebral fissure | false | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets