Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3688042017 | TUBB4A-related leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3688043010 | TUBB4A (tubulin beta 4A class IVa) related leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3688044016 | Tubulin beta 4A class IVa related leukodystrophy (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3688045015 | Tubulin beta 4A class IVa related leukodystrophy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3688046019 | TUBB4A-related hypomyelinating leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3688017014 | A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| TUBB4A-related leukodystrophy | Associated morphology | Myelin sheath alteration | true | Inferred relationship | Some | 1 | |
| TUBB4A-related leukodystrophy | Finding site | Myelinated nerve fiber structure | true | Inferred relationship | Some | 1 | |
| TUBB4A-related leukodystrophy | Finding site | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 2 | |
| TUBB4A-related leukodystrophy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| TUBB4A-related leukodystrophy | Is a | Leucodystrophy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) | Is a | True | TUBB4A-related leukodystrophy | Inferred relationship | Some |
This concept is not in any reference sets
FHIR