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neuroacanthocytosesyndroom van McLeod (aandoening)
neuroacanthocytosesyndroom van McLeod
X-gebonden syndroom van McLeod
McLeod neuroacanthocytosis syndrome
X-linked McLeod syndrome
A form of neuroacanthocytosis with clinical characteristics of a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. The disorder is very rare and a few hundred cases are suspected worldwide. About one third of patients present with chorea indistinguishable from that observed in Huntington disease and most patients will develop chorea during the course of the disease. Caused by mutations of the XK gene (Xp21.1) encoding the XK protein, which includes the Kx erythrocyte antigen. Most pathogenic mutations are nonsense mutations or deletions predicting an absent or shortened XK protein lacking the Kell protein-binding site.
Id724172004
StatusPrimitive
Associated morphologyacanthocyt
Finding siteerytrocyt
referentieset met complexe 'mapping' naar ICD-10
TargetG10
RuleTRUE
AdviceALWAYS G10
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE78.6
RuleTRUE
AdviceALWAYS E78.6
CorrelationSNOMED CT source code to target map code correlation not specified