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 |
| 750941000241113 | syndrome d'ataxie neuropathique sensorielle-dysarthrie-ophtalmoplégie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 886951000172112 | syndrome d'ataxie neuropathique sensorielle-dysarthrie-ophtalmoplégie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 979381000172111 | SANDO - sensory ataxic neuropathy, dysarthria, ophthalmoparesis | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3308897016 | This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777400017 | This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibers on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. | 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) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 5 | |
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | localisation d'une constatation (attribut) | Structure of extraocular muscle | true | Inferred relationship | Some | 4 | |
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | affection des muscles et des nerfs périphériques combinée (trouble) | true | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | Due to | Mitochondrial cytopathy | true | Inferred relationship | Some | 3 | |
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | Dysarthria | false | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | progressive external ophthalmoplegia (trouble) | true | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | Sensory ataxia (finding) | true | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | Peripheral neuropathy due to metabolic disorder (disorder) | true | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | survenue (attribut) | Adulthood (qualifier value) | true | Inferred relationship | Some | 1 | |
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | localisation d'une constatation (attribut) | nerf périphérique (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | localisation d'une constatation (attribut) | Eye region structure (body structure) | false | Inferred relationship | Some | 4 | |
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) | est un(e) (attribut) | Acquired dysarthria (finding) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR