Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3308251012 | Pelizaeus Merzbacher like disease (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308252017 | Pelizaeus Merzbacher like disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308253010 | PMLD - Pelizaeus Merzbacher like disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308254016 | An autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on magnetic resonance imaging. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308255015 | An autosomal recessive leucodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterised by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leucodystrophy on magnetic resonance imaging. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Pelizaeus Merzbacher like disease due to HSPD1 mutation | Is a | True | Pelizaeus Merzbacher like disease (disorder) | Inferred relationship | Some | |
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) | Is a | True | Pelizaeus Merzbacher like disease (disorder) | Inferred relationship | Some | |
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) | Is a | True | Pelizaeus Merzbacher like disease (disorder) | Inferred relationship | Some | |
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) | Is a | True | Pelizaeus Merzbacher like disease (disorder) | Inferred relationship | Some |
Reference Sets
Description inactivation indicator reference set