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 |
| 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) | est un(e) (attribut) | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | est un(e) (attribut) | Progressive muscular atrophy | true | Inferred relationship | Some | ||
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 1 | |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | morphologie associée (attribut) | atrophie (anomalie morphologique) | true | Inferred relationship | Some | 1 | |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | survenue (attribut) | Infancy (qualifier value) | true | Inferred relationship | Some | 3 | |
| Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR