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 |
| 3313774016 | Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313775015 | Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313776019 | Spondyloepiphyseal dysplasia MacDermot type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3313777011 | Spondyloepiphyseal dysplasia MacDermot type has characteristics of short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. The syndrome has been described in a family in which females in four successive generations were affected. Myopia and retinal detachment were present in adult life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Myopia | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Spondyloepiphyseal dysplasia congenita group (disorder) | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 3 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 2 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR