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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 characterized by 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
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map486
SNOMED CT to ICD-10 extended map
TargetD70
RuleTRUE
AdviceALWAYS D70 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified