Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3315426017 | Spinocerebellar ataxia type 14 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315427014 | Spinocerebellar ataxia type 14 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315428016 | A rare disease with manifestations of slowly progressive ataxia, dysarthria and nystagmus. The disease has been reported in more than twenty families from Europe, the United States, and Australia. Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years. In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
889281000172119 | SCA14 - spinocerebellar ataxia type 14 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1014791000172112 | ataxie spinocérébelleuse type 14 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets