hypermanganesemie met dystonie
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hypermanganesemie met dystonie 2 (aandoening)
hypermanganesemie met dystonie 2
Hypermanganesemia with dystonia 2
HMNDYT2 - hypermanganesemia with dystonia 2
An inherited disorder characterized by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. This disease is caused by mutations in the SLC39A14 gene responsible for instructions for proteins that transport manganese across cell membranes. Because SLC39A14 gene mutations prevent manganese from entering liver cells, this disease does not cause liver damage. Polycythemia is also absent but the reason for this is unknown. Inherited in an autosomal recessive pattern.
Id768554008
StatusPrimitive
Finding sitestructuur van extrapiramidaal systeem
InterpretsMovement
SNOMED CT to Orphanet simple map521406
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG24.8
RuleTRUE
AdviceALWAYS G24.8
CorrelationSNOMED CT source code to target map code correlation not specified