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 |
3499493018 | Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499494012 | Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499495013 | Suarez Stickler syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3500010010 | Very rare syndrome with clinical characteristics of multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4012491000052113 | syndrom med skelettdysplasi med suturben, multipla frakturer och dentinogenesis imperfecta | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Is a | Dentinogenesis imperfecta | true | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Is a | Dysplasia with decreased bone density | true | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Finding site | Tooth structure | false | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 4 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Finding site | Tooth structure | false | Inferred relationship | Some | 1 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 2 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Interprets | Bone density scan | true | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Is a | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | Finding site | Dentin structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets