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 |
3318564019 | Triphalangeal thumb with brachyectrodactyly syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
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 | Only initial character 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 | Only initial character 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 |
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 |
3410571001000110 | Triphalangeale Daumen - Brachyektrodaktylie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
900491000172118 | syndrome de Carnevale-Hernández-del Castillo | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
920751000172110 | syndrome de pouce triphalangé-brachyectrodactylie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
900491000172118 | syndrome de Carnevale-Hernández-del Castillo | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
920751000172110 | syndrome de pouce triphalangé-brachyectrodactylie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3410571001000110 | Triphalangeale Daumen - Brachyektrodaktylie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)