autosomaal recessieve hereditaire aandoening	congenitale neutropenie
\|	\|

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 characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), 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.

Id	783201001
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

420702

SNOMED CT to ICD-10 extended map

Target	D70
Rule	TRUE
Advice	ALWAYS D70
Correlation	SNOMED CT source code to target map code correlation not specified