Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3763861010 | Autosomal dominant spastic ataxia type 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3763862015 | Autosomal dominant spastic ataxia type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3763863013 | SPAX1 - autosomal dominant spastic ataxia type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3763864019 | A rare genetic autosomal dominant spastic ataxia disorder with characteristics of lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances. Caused by heterozygous mutation in the VAMP1 gene on chromosome 12p13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant spastic ataxia type 1 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant spastic ataxia type 1 (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant spastic ataxia type 1 (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR