autosomaal dominante hereditaire aandoening
congenitale neutropenie
hereditair tumorpredispositiesyndroom
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autosomaal dominante ernstige congenitale neutropenie (aandoening)
autosomaal dominante ernstige congenitale neutropenie
autosomaal dominante ernstige aangeboren neutrocytopenie
Autosomal dominant severe congenital neutropenia
A rare primary immunodeficiency disorder with characteristics of autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset severe recurrent bacterial infections.
Id770947009
StatusPrimitive
Occurrencecongenitaal
Has interpretationonder referentiebereik
Interpretsbepalen van neutrofielen
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD70
TermAgranulocytose
SNOMED CT to Orphanet simple map486
SNOMED CT to ICD-10 extended map
TargetD70
RuleTRUE
AdviceALWAYS D70
CorrelationSNOMED CT source code to target map code correlation not specified