Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5066397011 | Duane retraction syndrome with congenital deafness | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5066398018 | Duane retraction syndrome with congenital deafness (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5066399014 | Duane retraction syndrome with congenital hearing loss | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5066400019 | A rare neurologic disease with characteristics of the presence of Duane retraction syndrome (i.e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400098012 | A rare neurologic disease characterized by the presence of Duane retraction syndrome (a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400099016 | A rare neurologic disease characterised by the presence of Duane retraction syndrome (a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Duane retraction syndrome with congenital deafness | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Is a | Duane's syndrome, type 3 | true | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Is a | Congenital hearing disorder | true | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Duane retraction syndrome with congenital deafness | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
| Duane retraction syndrome with congenital deafness | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Duane retraction syndrome with congenital deafness | Finding site | Abducens nerve structure | true | Inferred relationship | Some | 1 | |
| Duane retraction syndrome with congenital deafness | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Duane retraction syndrome with congenital deafness | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Duane retraction syndrome with congenital deafness | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Duane retraction syndrome with congenital deafness | Finding site | Eye structure | true | Inferred relationship | Some | 2 | |
| Duane retraction syndrome with congenital deafness | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Duane retraction syndrome with congenital deafness | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Duane retraction syndrome with congenital deafness | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Duane retraction syndrome with congenital deafness | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
| Duane retraction syndrome with congenital deafness | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Is a | Hereditary hearing loss | true | Inferred relationship | Some | ||
| Duane retraction syndrome with congenital deafness | Interprets | Hearing | true | Inferred relationship | Some | 5 | |
| Duane retraction syndrome with congenital deafness | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)