Status: current, Defined. 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 | Case insensitive | SNOMED CT core |
4578703010 | Autosomal recessive bilateral optic atrophy | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive bilateral optic atrophy | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 1 | |
Autosomal recessive bilateral optic atrophy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive bilateral optic atrophy | Is a | Hereditary bilateral optic atrophy | true | Inferred relationship | Some | ||
Autosomal recessive bilateral optic atrophy | Finding site | Structure of left optic nerve | true | Inferred relationship | Some | 1 | |
Autosomal recessive bilateral optic atrophy | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 2 | |
Autosomal recessive bilateral optic atrophy | Finding site | Structure of right optic nerve | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set