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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | survenue (attribut) | congénital | 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 | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | localisation d'une constatation (attribut) | dent (structure corporelle) | false | Inferred relationship | Some | 1 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | interprète (attribut) | ostéodensitométrie | true | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | est un(e) (attribut) | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | est un(e) (attribut) | Developmental hereditary disorder | false | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | localisation d'une constatation (attribut) | Dentin structure | true | Inferred relationship | Some | 1 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | est un(e) (attribut) | Dentinogenesis imperfecta | true | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | est un(e) (attribut) | Dysplasia with decreased bone density | true | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | localisation d'une constatation (attribut) | dent (structure corporelle) | false | Inferred relationship | Some | 3 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | 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