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Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency (disorder)
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency
Autosomal recessive severe congenital neutropenia due to CXCR2 (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.
autosomaal recessieve ernstige congenitale neutropenie door deficiƫntie van 'C-X-C motif chemokine receptor 2'
autosomaal recessieve ernstige congenitale neutropenie door CXCR2-deficiƫntie
Id783200000
StatusPrimitive
Has interpretationBelow reference range
InterpretsNeutrophil count
Pathological processAbnormal immune process
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD70
RuleTRUE
AdviceALWAYS D70
CorrelationSNOMED CT source code to target map code correlation not specified