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 |
| 3315405017 | Spondyloepiphyseal dysplasia Kimberley type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315406016 | Spondyloepiphyseal dysplasia Kimberley type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315407013 | Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3885911000052118 | spondyloepifysdysplasi, Kimberley-typ | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Is a | Spondyloepiphyseal dysplasia congenita group (disorder) | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Kimberley type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR