Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3701485013 | Retinal macular dystrophy type 2 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3701486014 | MCDR2 - retinal macular dystrophy type 2 | en | Synonym | Active | Case sensitive | SNOMED CT core |
3701487017 | Retinal macular dystrophy type 2 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4611847016 | A rare, genetic macular dystrophy disorder characterized by slowly progressive bull's eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). | en | Definition | Active | Case sensitive | SNOMED CT core |
4611848014 | A rare, genetic macular dystrophy disorder characterised by slowly progressive bull's eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Retinal macular dystrophy type 2 | Is a | Hereditary macular dystrophy | true | Inferred relationship | Some | ||
Retinal macular dystrophy type 2 | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
Retinal macular dystrophy type 2 | Finding site | Macula lutea structure | true | Inferred relationship | Some | 1 | |
Retinal macular dystrophy type 2 | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set