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 |
| 3332328018 | Skeletal dysplasia with intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332330016 | Skeletal dysplasia with intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332333019 | Christian syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6952621000146115 | X-gebonden syndroom van skeletdysplasie en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6952631000146118 | syndroom van Christian | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7495041000146115 | X-gebonden syndroom met skeletdysplasie en verstandelijke beperking (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7718821000146118 | X-gebonden syndroom met skeletdysplasie en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7796731000146114 | X-gebonden syndroom van skeletdysplasie en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3332334013 | This syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked. | 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 intellectual disability syndrome (disorder) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Is a | Spondylodysplastic group | true | Inferred relationship | Some | ||
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Skeletal dysplasia with intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR