Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723737014 | A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723739012 | A rare hereditary ataxia characterized by early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723732015 | Spinocerebellar ataxia autosomal recessive type 23 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723733013 | SCAR23 - spinocerebellar ataxia autosomal recessive type 23 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723736017 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723738016 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Is a | A type of epilepsy with only generalised onset epileptic seizures. | true | Inferred relationship | Some | ||
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Clinical course | Progressive | true | Inferred relationship | Some | 1 | |
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Finding site | The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. | true | Inferred relationship | Some | 3 | |
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR