Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4634487013 | Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4634488015 | Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4634489011 | A rare genetic neurodegenerative disease with characteristics of neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Is a | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Is a | Progressive muscular atrophy | true | Inferred relationship | Some | ||
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Finding site | Structure of nervous system | true | Inferred relationship | Some | 1 | |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Occurrence | Infancy | true | Inferred relationship | Some | 3 | |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set