Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3312744015 | Juvenile amyotrophic lateral sclerosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3312745019 | Juvenile amyotrophic lateral sclerosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3312747010 | JALS - juvenile amyotrophic lateral sclerosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3312746018 | A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3916511000052113 | juvenil amyotrofisk lateralskleros | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 5230671000052118 | juvenil ALS | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Juvenile amyotrophic lateral sclerosis (disorder) | Is a | Amyotrophic lateral sclerosis | true | Inferred relationship | Some | ||
| Juvenile amyotrophic lateral sclerosis (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Juvenile amyotrophic lateral sclerosis (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