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autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'C-X-C motif chemokine receptor 2' (aandoening)
autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'C-X-C motif chemokine receptor 2'
autosomaal recessieve ernstige congenitale neutropenie door CXCR2-deficiëntie
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive severe congenital neutropenia due to CXCR2 (C-X-C motif chemokine receptor 2) deficiency
Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency
A rare genetic primary immunodeficiency disorder with characteristics of recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.
Id783200000
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