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 |
3322627011 | Fibular dimelia accompanied by complete tibial agenesis and mirror polydactyly or foot duplication is a rare developmental anomaly reported in at least 11 cases. It can be isolated or associated with ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. The cause is unknown, but has been suggested that a teratogenic event occurs as developmental specification reaches the level of the future knee. A central role for the mesenchymal precursor, from which chondro-osseous morphology emerges, has also been suggested. Treatment is surgical and prosthesis is needed in order to improve the quality of life of affected children. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402526015 | A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402527012 | A very rare, genetic, congenital limb malformation syndrome characterised by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322626019 | Leg duplication mirror foot syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322628018 | Fibular dimelia diplopodia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322629014 | Fibular dimelia diplopodia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Is a | Duplication of fibula | true | Inferred relationship | Some | ||
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Is a | Congenital anomaly of foot | true | Inferred relationship | Some | ||
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Finding site | Foot structure | true | Inferred relationship | Some | 2 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Associated morphology | Double structure (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Finding site | Bone structure of fibula | false | Inferred relationship | Some | 3 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Finding site | Bone structure of fibula | true | Inferred relationship | Some | 1 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. | Associated morphology | Double structure (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set