Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3702238015 | Autosomal recessive spastic paraplegia type 58 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702239011 | Autosomal recessive spastic ataxia type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702240013 | Autosomal recessive spastic paraplegia type 58 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
6152981000146114 | autosomaal recessieve spastische paraplegie type 58 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6152991000146111 | autosomaal recessieve spastische paraplegie type 58 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3702241012 | A rare complex subtype of hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (such as clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (for example nystagmus) and distal amyotrophy in the upper and lower limbs. Caused by homozygous mutation in the KIF1C gene on chromosome 17p13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets