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 |
| 3321485010 | Doughnut lesion of calvaria and bone fragility syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321486011 | Doughnut lesion of calvaria and bone fragility syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321487019 | Calvarial doughnut lesion with bone fragility syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321488012 | Familial doughnut lesions of skull | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Is a | Disorder of skull (disorder) | false | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Is a | Dysplasia with decreased bone density | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Associated morphology | Lesion (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Finding site | Structure of vault of skull (body structure) | false | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Is a | Congenital anomaly of skull | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Finding site | Structure of vault of skull (body structure) | false | Inferred relationship | Some | 1 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Associated morphology | Lesion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Interprets | Bone density scan | true | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Is a | Congenital anomaly of head | false | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Finding site | Bone structure of vault of skull (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR