Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3450449019 | Autosomal recessive cerebellar ataxia Beauce type (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3450450019 | Autosomal recessive cerebellar ataxia Beauce type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3450451015 | ARCA1 - autosomal recessive cerebellar ataxia type 1 | en | Synonym | Active | Case sensitive | SNOMED CT core |
3450452010 | Disease with characteristics of slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive cerebellar ataxia Beauce type | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive cerebellar ataxia Beauce type | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Autosomal recessive cerebellar ataxia Beauce type | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
Autosomal recessive cerebellar ataxia Beauce type | Is a | Late onset cerebellar ataxia | true | Inferred relationship | Some | ||
Autosomal recessive cerebellar ataxia Beauce type | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
Autosomal recessive cerebellar ataxia Beauce type | Is a | Hereditary ataxia | 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