Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3464763019 | An extremely rare genetic disease reported in only two brothers to date with the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal. There have been no further reports in the literature since 1972. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3464760016 | Craniosynostosis fibular aplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3464761017 | Craniosynostosis fibular aplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3464762012 | Lowry syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Congenital anomaly of skull | false | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Craniosynostosis syndrome | true | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Congenital absence of fibula | false | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Congenital anomaly of bone and joint | true | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 2 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Finding site | Structure of coronal suture of skull | false | Inferred relationship | Some | 2 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Associated morphology | Congenital absence | false | Inferred relationship | Some | 3 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Finding site | Bone structure of fibula | false | Inferred relationship | Some | 3 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Finding site | Structure of coronal suture of skull | true | Inferred relationship | Some | 1 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 1 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Finding site | Entire fibula | true | Inferred relationship | Some | 2 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Agenesis of fibula | true | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Is a | Finding of head region | true | Inferred relationship | Some | ||
Craniosynostosis fibular aplasia syndrome (disorder) | Associated morphology | Premature fusion | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets