Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3303530011 | Spinocerebellar ataxia type 7 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3303531010 | Spinocerebellar ataxia type 7 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3303532015 | Ataxia with pigmentary retinopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3303533013 | Cerebellar syndrome pigmentary maculopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3303534019 | A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set