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 | Reference Sets |
3322619019 | Aplasia of fibula and ectrodactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
3322620013 | Fibular aplasia and ectrodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
3322621012 | Familial ectrodactyly with fibular aplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Acceptable (foundation metadata concept) |
3322622017 | Aplasia of fibula and ectrodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Acceptable (foundation metadata concept) |
3322623010 | This syndrome has characteristics of fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
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 | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets