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 |
3324593011 | Early-onset X-linked optic atrophy (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3324594017 | Early-onset X-linked optic atrophy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3324595016 | Non-Leber type optic atrophy with early-onset | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3324611017 | Optic atrophy type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Early-onset X-linked optic atrophy (disorder) | Is a | Hereditary optic atrophy | false | Inferred relationship | Some | ||
Early-onset X-linked optic atrophy (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
Early-onset X-linked optic atrophy (disorder) | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 2 | |
Early-onset X-linked optic atrophy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Early-onset X-linked optic atrophy (disorder) | Finding site | Optic nerve structure | true | Inferred relationship | Some | 2 | |
Early-onset X-linked optic atrophy (disorder) | Is a | Congenital atrophy of optic nerve (disorder) | true | Inferred relationship | Some | ||
Early-onset X-linked optic atrophy (disorder) | Is a | X-linked recessive hereditary disease | false | Inferred relationship | Some | ||
Early-onset X-linked optic atrophy (disorder) | Is a | X-linked optic atrophy | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets