Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3450450019 | Autosomal recessive cerebellar ataxia Beauce type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3450451015 | ARCA1 - autosomal recessive cerebellar ataxia type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive cerebellar ataxia Beauce type (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive cerebellar ataxia Beauce type (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Autosomal recessive cerebellar ataxia Beauce type (disorder) | localisation d'une constatation (attribut) | structure cérébelleuse | true | Inferred relationship | Some | 1 | |
Autosomal recessive cerebellar ataxia Beauce type (disorder) | est un(e) (attribut) | Late onset cerebellar ataxia | true | Inferred relationship | Some | ||
Autosomal recessive cerebellar ataxia Beauce type (disorder) | est un(e) (attribut) | Cerebellar ataxia | true | Inferred relationship | Some | ||
Autosomal recessive cerebellar ataxia Beauce type (disorder) | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets