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 |
| 3313778018 | Spondyloepiphyseal dysplasia Reardon type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3313779014 | Spondyloepiphyseal dysplasia Reardon type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5401861015 | Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401862010 | Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterised by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Is a | Spondyloepiphyseal dysplasia congenita group (disorder) | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Reardon type (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR