Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5013614018 | 4H leukodystrophy (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5013615017 | 4H leucodystrophy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5013616016 | 4H leukodystrophy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5013617013 | POLR-related leucodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5013618015 | POLR-related leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399878013 | A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399879017 | A rare hypomyelinating leucodystrophy disorder characterised by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leucodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Odontoleukodystrophy (disorder) | Is a | True | 4H leukodystrophy (disorder) | Inferred relationship | Some | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | True | 4H leukodystrophy (disorder) | Inferred relationship | Some | |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | Is a | True | 4H leukodystrophy (disorder) | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)