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 |
3322619019 | Aplasia of fibula and ectrodactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322620013 | Fibular aplasia and ectrodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322621012 | Familial ectrodactyly with fibular aplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322622017 | Aplasia of fibula and ectrodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5402524017 | A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402525016 | A rare, genetic, congenital dysostosis disorder characterised by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Ectrodactyly | true | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Dysostosis | true | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Congenital anomaly of fibula | false | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Associated morphology | Aplasia | false | Inferred relationship | Some | 4 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Finding site | Bone structure of fibula | false | Inferred relationship | Some | 4 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Finding site | Entire digit | false | Inferred relationship | Some | 5 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Associated morphology | Aplasia | true | Inferred relationship | Some | 2 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Finding site | Bone structure of fibula | true | Inferred relationship | Some | 2 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Finding site | Entire digit | true | Inferred relationship | Some | 1 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Adactyly | false | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Absence of fibula | false | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Congenital absence of fibula | false | Inferred relationship | Some | ||
Aplasia of fibula and ectrodactyly syndrome (disorder) | Is a | Aplasia of fibula | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)