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 |
| 3442311019 | Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442312014 | AOA2 - ataxia oculomotor apraxia type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3442313016 | SCAR1 - spinocerebellar ataxia autosomal recessive 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3442314010 | Spinocerebellar ataxia with axonal neuropathy type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442316012 | Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442315011 | A rare autosomal recessive cerebellar ataxia with characteristics of progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. This disease is mostly an adolescent onset disorder. Caused by mutations in SETX gene (9q34), encoding senataxin protein, a DNA/RNA helicase in nucleus which is implicated in DNA break repair. Mutations in the gene PIK3R5 (17p13.1) have also been implicated in the pathogenesis of this disease. Transmission is autosomal recessive. | 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 with oculomotor apraxia type 2 (disorder) | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) | Is a | Oculomotor apraxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (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