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 |
5402281014 | A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402282019 | A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterised by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. | 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
Component annotation with string value reference set (foundation metadata concept)