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 |
| 5013619011 | 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. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5013620017 | 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. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Odontoleukodystrophy (disorder) | est un(e) (attribut) | True | 4H leukodystrophy (disorder) | Inferred relationship | Some | |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | est un(e) (attribut) | True | 4H leukodystrophy (disorder) | Inferred relationship | Some | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | True | 4H leukodystrophy (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR