Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3309073019 | Cerebellar ataxia Cayman type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3309074013 | Cerebellar ataxia Cayman type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3309075014 | Cayman ataxia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3309076010 | Cerebellar ataxia Cayman type has characteristics of psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. The prevalence is unknown, but the disorder is very rare in the general population. However, a founder mutation has led to a high incidence in the Cayman island population. The disorder is transmitted as an autosomal recessive trait and is caused by mutations in the ATCAY gene (19p13.3), encoding Caytaxin. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 968811000172112 | ataxie type Caïman | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1013161000172116 | ataxie cérébelleuse type Caïman | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cerebellar ataxia Cayman type (disorder) | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Cerebellar ataxia Cayman type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cerebellar ataxia Cayman type (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Cerebellar ataxia Cayman type (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Cerebellar ataxia Cayman type (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR