| leukodystrofie bij mutatie in bètatubuline 4A klasse IVa (aandoening) | | leukodystrofie bij mutatie in bètatubuline 4A klasse IVa | | TUBB4A-gerelateerde leukodystrofie
| | TUBB4A-related leukodystrophy | | Tubulin beta 4A class IVa related leukodystrophy
TUBB4A-related hypomyelinating leukodystrophy
TUBB4A (tubulin beta 4A class IVa) related leukodystrophy
| | 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. |
| | Id | 769065000 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | E75.2 | | Rule | TRUE | | Advice | ALWAYS E75.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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