Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3728155011 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | en | Synonym | Active | Case insensitive | SNOMED CT core |
3728156012 | Retinal dystrophy with inner nuclear layer and ganglion cell anomalies | en | Synonym | Active | Case insensitive | SNOMED CT core |
3728157015 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3728158013 | A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. | en | Definition | Active | Case sensitive | SNOMED CT core |
3728159017 | A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fibre layer with loss of optic nerve fibres manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | Is a | Hereditary retinal dystrophy | true | Inferred relationship | Some | ||
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | Finding site | Retinal structure | true | Inferred relationship | Some | 1 | |
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set