Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3655337013 | Absent tibia polydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655338015 | Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655339011 | Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 767261000241110 | syndrome d'hémimélie tibiale-polysyndactylie-pouce triphalangé (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 907251000172114 | syndrome d'agénésie tibiale-polydactylie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 948811000172116 | syndrome d'hémimélie tibiale-polysyndactylie-pouce triphalangé | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3655359010 | A rare genetic dysostosis syndrome with marked inter and intra-familial variation with typical characteristics of triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | est un(e) (attribut) | Congenital anomaly of limb | true | Inferred relationship | Some | ||
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | est un(e) (attribut) | Dysostosis | true | Inferred relationship | Some | ||
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | localisation d'une constatation (attribut) | Bone structure of extremity | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR