autosomaal recessieve hereditaire aandoening	congenitale neutropenie
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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 characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.

Id	783200000
Status	Primitive

Has interpretation	onder referentiebereik
Interprets	bepalen van neutrofielen

Pathological process

afwijkend immuunproces

Occurrence

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	D70
Term	Agranulocytose

SNOMED CT to Orphanet simple map

420699

SNOMED CT to ICD-10 extended map

Target	D70
Rule	TRUE
Advice	ALWAYS D70 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified