Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3308894011 | Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308895012 | Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308896013 | SANDO (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401545010 | A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401546011 | A rare mitochondrial disease characterised by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 3 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Dysarthria | false | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Progressive external ophthalmoplegia | true | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Sensory ataxia (finding) | true | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Peripheral neuropathy due to metabolic disorder (disorder) | true | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 2 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Finding site | Eye region structure (body structure) | false | Inferred relationship | Some | 4 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Acquired dysarthria (finding) | true | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 5 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Finding site | Structure of extraocular muscle | true | Inferred relationship | Some | 4 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Myoneural disorder | true | Inferred relationship | Some | ||
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 7 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 6 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 6 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Interprets | Speech observable | true | Inferred relationship | Some | 8 | |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Is a | Secondary myopathy | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)