Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3313804013 | Spinocerebellar ataxia type 23 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3313805014 | Spinocerebellar ataxia type 23 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3313806010 | A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years. Maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the 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