Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3759523010 | Lower motor neuron syndrome with late-adult onset (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3759524016 | Lower motor neuron syndrome with late-adult onset | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3759525015 | A rare genetic motor neuron disease with characteristics of slowly progressive predominantly proximal muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor and elevated serum creatine kinase at onset and later associates gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4360791000052116 | nedre motorneuronsyndrom med debut sent i vuxen ålder | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lower motor neuron syndrome with late-adult onset (disorder) | Is a | Spinal muscular atrophy | true | Inferred relationship | Some | ||
Lower motor neuron syndrome with late-adult onset (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Lower motor neuron syndrome with late-adult onset (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
Lower motor neuron syndrome with late-adult onset (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
Lower motor neuron syndrome with late-adult onset (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
Lower motor neuron syndrome with late-adult onset (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set