Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3315913013 | Spinocerebellar ataxia type 37 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3315914019 | Spinocerebellar ataxia type 37 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3315915018 | Spinocerebellar ataxia with altered vertical eye movement | en | Synonym | Active | Case insensitive | SNOMED CT core |
3315916017 | Disease with characteristics of cerebellar syndrome along with altered vertical eye movements. Reported in nine members of Spanish kindred to date. Disease onset occurs in adulthood (from the ages of 38-64). Clinical manifestations are slowly progressive cerebellar ataxia (starting with falls, dysarthria and clumsiness followed by other cerebellar signs) along with altered vertical eye movements. The causal gene is unknown but it has been mapped to chromosome 1p32 and named the SCA37 locus. Inherited in an autosomal dominant manner. | 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
Description inactivation indicator reference set