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 |
5401614019 | A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401615018 | A rare primary bone dysplasia characterised by the association of spondylometaphyseal dysplasia, generalised joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. | 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) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Finding site | Tooth structure | false | Inferred relationship | Some | 4 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Metaphyseal chondrodysplasia | true | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Dentinogenesis imperfecta | true | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
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) | Occurrence | Congenital | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Finding site | Tooth structure | false | Inferred relationship | Some | 1 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Interprets | Height / growth measure | false | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Finding site | Dentin structure | true | Inferred relationship | Some | 1 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Congenital anomaly of limb | false | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Interprets | Limb length | true | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 4 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 2 | |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) | Is a | Congenital dysplasia of limb (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)