Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634488015 | Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13115661000146119 | syndroom van vroeg optredende progressieve encefalopathie, spastische ataxie en distale spinale spieratrofie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13115671000146113 | syndroom van vroeg optredende progressieve encefalopathie, spastische ataxie en distale spinale spieratrofie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Is a | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Is a | Progressive muscular atrophy | true | Inferred relationship | Some | ||
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 3 | |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 3 | |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Is a | Autosomal recessive hereditary motor neuron disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR