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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 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.
Id783200000
StatusPrimitive
Pathological processafwijkend immuunproces
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD70
TermAgranulocytose
SNOMED CT to Orphanet simple map420699
SNOMED CT to ICD-10 extended map
TargetD70
RuleTRUE
AdviceALWAYS D70
CorrelationSNOMED CT source code to target map code correlation not specified