Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3324593011 | Early-onset X-linked optic atrophy (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3324594017 | Early-onset X-linked optic atrophy | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3324595016 | Non-Leber type optic atrophy with early-onset | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3324611017 | Optic atrophy type 2 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3324612012 | A rare form of hereditary optic atrophy seen in only 4 families to date. With onset in early childhood the disease has characteristics of progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Early-onset X-linked optic atrophy | Is a | X-linked recessive hereditary disease | false | Inferred relationship | Some | ||
Early-onset X-linked optic atrophy | Is a | X-linked optic atrophy | true | Inferred relationship | Some | ||
Early-onset X-linked optic atrophy | Is a | Hereditary optic atrophy | false | Inferred relationship | Some | ||
Early-onset X-linked optic atrophy | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
Early-onset X-linked optic atrophy | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 2 | |
Early-onset X-linked optic atrophy | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Early-onset X-linked optic atrophy | Finding site | Optic nerve structure | true | Inferred relationship | Some | 2 | |
Early-onset X-linked optic atrophy | Is a | Congenital atrophy of optic nerve | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Australian dialect reference set
Problem/Diagnosis reference set