Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755475011 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3755476012 | Autosomal recessive spinocerebellar ataxia type 15 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3755477015 | SCAR15 - autosomal recessive spinocerebellar ataxia type 15 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3755479017 | Salih ataxia | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3755482010 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3755483017 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3755484011 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3755481015 | An extremely rare autosomal recessive hereditary cerebellar ataxia disorder with characteristics of early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. | 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 RUBCN deficiency | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | Finding site | Spinal cord structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR