Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module
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 | SNOMED CT core module |
| 3313775015 | Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3313776019 | Spondyloepiphyseal dysplasia MacDermot type | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Myopia | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Spondyloepiphyseal dysplasia congenita group | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Finding site | Structure of visual system | true | Inferred relationship | Existential restriction modifier | 3 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Finding site | Ear structure | false | Inferred relationship | Existential restriction modifier | 2 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier | 3 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 3 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Finding site | Bone structure | false | Inferred relationship | Existential restriction modifier | 3 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Finding site | Structure of auditory system | true | Inferred relationship | Existential restriction modifier | 2 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Interprets | Hearing, function | true | Inferred relationship | Existential restriction modifier | 4 | |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Is a | Sensorineural hearing loss | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR