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hypermanganesemie met dystonie 2 (aandoening)
hypermanganesemie met dystonie 2
Hypermanganesemia with dystonia 2
HMNDYT2 - hypermanganesemia with dystonia 2
A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.
Id768554008
StatusPrimitive
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