Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723732015 | Spinocerebellar ataxia autosomal recessive type 23 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3723733013 | SCAR23 - spinocerebellar ataxia autosomal recessive type 23 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3723736017 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3723738016 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Is a | Hereditary ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Is a | Generalised epilepsy | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Clinical course | Progressive | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 3 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 6 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR