Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
| 4945847017 | Juvenile amyotrophic lateral sclerosis type 2 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 4945848010 | Juvenile amyotrophic lateral sclerosis due to ALS2 gene mutation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 4945850019 | JALS (juvenile amyotrophic lateral sclerosis) type 2 | en | Synonym | Active | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Juvenile amyotrophic lateral sclerosis type 2 | Is a | Juvenile amyotrophic lateral sclerosis | true | Inferred relationship | Some | ||
| Juvenile amyotrophic lateral sclerosis type 2 | Clinical course | Progressive | true | Inferred relationship | Some | 1 | |
| Juvenile amyotrophic lateral sclerosis type 2 | Finding site | Structure of nervous system | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR