Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302909015 | Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302910013 | Mirror polydactyly, vertebral segmentation and limb defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 8458791000146116 | syndroom van symmetrische polydactylie, vertebrale segmentatie en extremiteitsdefect | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8458801000146117 | syndroom van symmetrische polydactylie, vertebrale segmentatie en extremiteitsdefect (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3302911012 | Rare syndrome with manifestations of mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus also reported. So far, it has been described in four unrelated infants, it is suggested that the syndrome is caused by defective expression of a developmental control gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Is a | congenitaal malformatiesyndroom met betrokkenheid van extremiteit | false | Inferred relationship | Some | ||
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Is a | Polydactyly (disorder) | true | Inferred relationship | Some | ||
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 2 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 2 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Finding site | Musculoskeletal structure of limb | false | Inferred relationship | Some | 3 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Finding site | Musculoskeletal structure of limb | false | Inferred relationship | Some | 2 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 1 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR