Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4945845013 | Juvenile amyotrophic lateral sclerosis type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4945847017 | Juvenile amyotrophic lateral sclerosis type 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4945848010 | Juvenile amyotrophic lateral sclerosis due to ALS2 gene mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4945850019 | JALS (juvenile amyotrophic lateral sclerosis) type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4945849019 | 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. Caused by homozygous mutation in the gene encoding alsin ALS2 (2q33-q35). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Juvenile amyotrophic lateral sclerosis type 2 | Is a | Juvenile amyotrophic lateral sclerosis (disorder) | true | Inferred relationship | Some | ||
| Juvenile amyotrophic lateral sclerosis type 2 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
| Juvenile amyotrophic lateral sclerosis type 2 | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR