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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403460019 | A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403461015 | A rare autosomal recessive cerebellar ataxia (ARCA), characterised by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | Is a | Oculomotor apraxia (disorder) | true | Inferred relationship | Some | ||
| A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | Finding site | The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways | true | Inferred relationship | Some | 2 | |
| A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR