Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3302910013 | Mirror polydactyly, vertebral segmentation and limb defect syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 1 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Associated morphology | Morphologically abnormal structure | false | Inferred relationship | Some | 2 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Is a | Congenital malformation syndromes involving limbs | false | Inferred relationship | Some | ||
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Is a | Polydactyly | true | Inferred relationship | Some | ||
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 2 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Finding site | Digit structure | false | Inferred relationship | Some | 2 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Finding site | Musculoskeletal structure of limb | false | Inferred relationship | Some | 3 | |
Mirror polydactyly, vertebral segmentation and limb defect syndrome | Finding site | Musculoskeletal structure of limb | false | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set