Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321485010 | Doughnut lesion of calvaria and bone fragility syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3321486011 | Doughnut lesion of calvaria and bone fragility syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3321487019 | Calvarial doughnut lesion with bone fragility syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3321488012 | Familial doughnut lesions of skull | en | Synonym | Active | Case insensitive | SNOMED CT core |
3321489016 | This syndrome has characteristics of multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. It has been observed in approximately 20 individuals. Clinical manifestations include the presence of cranial lumps, numerous pathologic fractures, elevated serum alkaline phosphatase levels, and dental caries. Transmission is autosomal dominant. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Calvarial doughnut lesion with bone fragility syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Calvarial doughnut lesion with bone fragility syndrome | Is a | Congenital anomaly of skull | true | Inferred relationship | Some | ||
Calvarial doughnut lesion with bone fragility syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Calvarial doughnut lesion with bone fragility syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Calvarial doughnut lesion with bone fragility syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Calvarial doughnut lesion with bone fragility syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Calvarial doughnut lesion with bone fragility syndrome | Finding site | Structure of vault of skull | false | Inferred relationship | Some | 1 | |
Calvarial doughnut lesion with bone fragility syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
Calvarial doughnut lesion with bone fragility syndrome | Associated morphology | Lesion | true | Inferred relationship | Some | 1 | |
Calvarial doughnut lesion with bone fragility syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Calvarial doughnut lesion with bone fragility syndrome | Interprets | Bone density scan | true | Inferred relationship | Some | 3 | |
Calvarial doughnut lesion with bone fragility syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
Calvarial doughnut lesion with bone fragility syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Calvarial doughnut lesion with bone fragility syndrome | Is a | Congenital anomaly of head | false | Inferred relationship | Some | ||
Calvarial doughnut lesion with bone fragility syndrome | Finding site | Bone structure of vault of skull | true | Inferred relationship | Some | 1 | |
Calvarial doughnut lesion with bone fragility syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Calvarial doughnut lesion with bone fragility syndrome | Is a | Disorder of skull | false | Inferred relationship | Some | ||
Calvarial doughnut lesion with bone fragility syndrome | Is a | Dysplasia with decreased bone density | true | Inferred relationship | Some | ||
Calvarial doughnut lesion with bone fragility syndrome | Is a | Inherited disorder of connective tissue | false | Inferred relationship | Some | ||
Calvarial doughnut lesion with bone fragility syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Calvarial doughnut lesion with bone fragility syndrome | Associated morphology | Lesion | false | Inferred relationship | Some | 3 | |
Calvarial doughnut lesion with bone fragility syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Calvarial doughnut lesion with bone fragility syndrome | Finding site | Structure of vault of skull | false | Inferred relationship | Some | 3 | |
Calvarial doughnut lesion with bone fragility syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Calvarial doughnut lesion with bone fragility syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Calvarial doughnut lesion with bone fragility syndrome | Finding site | Bone structure | false | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set