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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du crâne (trouble) | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | survenue (attribut) | congénital | 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) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | localisation d'une constatation (attribut) | Structure of vault of skull (body structure) | false | Inferred relationship | Some | 1 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | morphologie associée (attribut) | Lesion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | interprète (attribut) | ostéodensitométrie | true | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of head | false | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | localisation d'une constatation (attribut) | Bone structure of vault of skull (body structure) | true | Inferred relationship | Some | 1 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | est un(e) (attribut) | Disorder of skull (disorder) | false | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | est un(e) (attribut) | Dysplasia with decreased bone density | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | morphologie associée (attribut) | Lesion (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | localisation d'une constatation (attribut) | Structure of vault of skull (body structure) | false | Inferred relationship | Some | 3 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR