Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4578702017 | Autosomal recessive bilateral optic atrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4578703010 | Autosomal recessive bilateral optic atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4578698016 | A rare hereditary optic atrophy with characteristics of early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5090671000052117 | autosomalt recessiv optikusatrofi i båda ögonen | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive bilateral optic atrophy (disorder) | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 1 | |
Autosomal recessive bilateral optic atrophy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive bilateral optic atrophy (disorder) | Is a | Hereditary bilateral optic atrophy (disorder) | true | Inferred relationship | Some | ||
Autosomal recessive bilateral optic atrophy (disorder) | Finding site | Structure of left optic nerve (body structure) | true | Inferred relationship | Some | 1 | |
Autosomal recessive bilateral optic atrophy (disorder) | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 2 | |
Autosomal recessive bilateral optic atrophy (disorder) | Finding site | Structure of right optic nerve (body structure) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets