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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401999011 | Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402000017 | Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterised by short stature and premature degenerative arthropathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Is a | Spondyloepiphyseal dysplasia congenita | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | Is a | Developmental hereditary 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)
FHIR