Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3703327013 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain containing oxidoreductase) deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3703328015 | Autosomal recessive spinocerebellar ataxia type 12 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3703329011 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3703330018 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3703331019 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3703332014 | A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3703333016 | A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterised by early-childhood onset of cerebellar ataxia associated with generalised tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23. | 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 WWOX deficiency | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 6 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Disorder of oculomotor nerve | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Generalised convulsive epilepsy | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 3 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Oculomotor nerve finding | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Hereditary ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Hereditary cerebellar degeneration | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Finding site | Oculomotor nerve structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | Is a | Intellectual disability | true | Inferred relationship | Some |
| 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