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 |
3323629016 | Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323630014 | Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323631013 | Goldblatt chondrodysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323632018 | Goldblatt syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323633011 | Odontochondrodysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323634017 | Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. To date, 11 patients have been reported. Chondrodysplasia has characteristics of mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. The condition is most probably hereditary, transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | false | Inferred relationship | Some | 1 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | false | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | localisation d'une constatation (attribut) | Dentin structure | true | Inferred relationship | Some | 1 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | false | Inferred relationship | Some | 4 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | est un(e) (attribut) | Metaphyseal chondrodysplasia | true | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | est un(e) (attribut) | Dentinogenesis imperfecta | true | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets