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 |
3318564019 | Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318565018 | Triphalangeal thumb with brachyectrodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318566017 | Carnevale Hernandez del Castillo syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318567014 | This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Is a | Triphalangeal thumb | true | Inferred relationship | Some | ||
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Is a | Brachydactyly of hand | true | Inferred relationship | Some | ||
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 2 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Finding site | Thumb structure | false | Inferred relationship | Some | 2 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 2 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Finding site | Entire digit of hand | false | Inferred relationship | Some | 2 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 3 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Finding site | Thumb structure | false | Inferred relationship | Some | 3 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Finding site | Entire digit of hand | true | Inferred relationship | Some | 1 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 1 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Finding site | Bone structure of phalanx of thumb | true | Inferred relationship | Some | 2 | |
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets