Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5035225011 | Cerebellar ataxia with oculomotor apraxia type 4 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5035226012 | AOA4 - ataxia, oculomotor apraxia type 4 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5035229017 | Cerebellar ataxia with oculomotor apraxia type 4 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5035228013 | A rare autosomal recessive cerebellar ataxia with characteristics of onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets