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 |
| 752351000241114 | sclérose latérale amyotrophique juvénile (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 897031000172115 | JALS - juvenile amyotrophic lateral sclerosis | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 945611000172113 | sclérose latérale amyotrophique juvénile | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Juvenile amyotrophic lateral sclerosis (disorder) | est un(e) (attribut) | trouble neurologique chronique | true | Inferred relationship | Some | ||
| Juvenile amyotrophic lateral sclerosis (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Juvenile amyotrophic lateral sclerosis (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| Juvenile amyotrophic lateral sclerosis (disorder) | est un(e) (attribut) | Amyotrophic lateral sclerosis | true | Inferred relationship | Some | ||
| Juvenile amyotrophic lateral sclerosis (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Juvenile amyotrophic lateral sclerosis (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Juvenile amyotrophic lateral sclerosis type 2 | est un(e) (attribut) | True | Juvenile amyotrophic lateral sclerosis (disorder) | Inferred relationship | Some | |
| Juvenile amyotrophic lateral sclerosis type 5 | est un(e) (attribut) | True | Juvenile amyotrophic lateral sclerosis (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR