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 |
| 1006431000172113 | JPLS - juvenile primary lateral sclerosis | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3324459010 | Juvenile primary lateral sclerosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324460017 | Juvenile primary lateral sclerosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 751721000241111 | sclérose latérale primitive juvénile (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 940091000172119 | sclérose latérale primitive juvénile | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3330220017 | A very rare motor neuron disease with characteristics of progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence and subsequently, loss of motor speech production. Affected patients are usually normal at birth and have normal early development. During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron disorders including pseudobulbar palsy and spastic quadriplegia. Other signs include clumsiness, muscle weakness and balance difficulties. Mutations in the ALS2 gene (2q33-q35) encoding alsin, a protein that is abundant in motor neurons, and less commonly mutations in the ERLIN2 gene (8p11.2) have been reported. Inherited in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Juvenile primary lateral sclerosis (disorder) | est un(e) (attribut) | Hereditary motor neuron disease (disorder) | true | Inferred relationship | Some | ||
| Juvenile primary lateral sclerosis (disorder) | est un(e) (attribut) | Primary lateral sclerosis | true | Inferred relationship | Some | ||
| Juvenile primary lateral sclerosis (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Juvenile primary lateral sclerosis (disorder) | morphologie associée (attribut) | sclérose (anomalie morphologique) | true | Inferred relationship | Some | 2 | |
| Juvenile primary lateral sclerosis (disorder) | survenue (attribut) | enfance | true | Inferred relationship | Some | 2 | |
| Juvenile primary lateral sclerosis (disorder) | localisation d'une constatation (attribut) | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR