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autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'colony stimulating factor 3 receptor' (aandoening)
autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'colony stimulating factor 3 receptor'
autosomaal recessieve ernstige congenitale neutropenie door CSF3R-deficiëntie
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
Autosomal recessive severe congenital neutropenia due to CSF3R (colony stimulating factor 3 receptor) deficiency
A rare genetic primary immunodeficiency disorder with characteristics of predisposition to recurrent life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.
Id783201001
StatusPrimitive
Pathological processafwijkend immuunproces
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD70
RuleTRUE
AdviceALWAYS D70
CorrelationSNOMED CT source code to target map code correlation not specified