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 |
5401460010 | Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5424391010 | Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leucodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
6445331000241118 | maladie Pelizaeus-Merzbacher-like | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6445341000241111 | maladie PML (Pelizaeus-Merzbacher-like) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3436491001000116 | Pelizaeus-Merzbacher-ähnliche Krankheit | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Is a | Leucodystrophy | true | Inferred relationship | Some | ||
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Associated morphology | Dystrophy | false | Inferred relationship | Some | 1 | |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Associated morphology | Myelin sheath alteration | true | Inferred relationship | Some | 1 | |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 1 | |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Finding site | Myelinated nerve fiber structure | true | Inferred relationship | Some | 1 | |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Finding site | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 2 | |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Pelizaeus Merzbacher like disease due to HSPD1 mutation | Is a | True | Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Inferred relationship | Some | |
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) | Is a | True | Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Inferred relationship | Some | |
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) | Is a | True | Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Inferred relationship | Some | |
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) | Is a | True | Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)