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pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1 (aandoening)
pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1
pancytopenie door IKZF1-mutaties
Pancytopenia due to IKZF1 mutations
Pancytopenia due to IKAROS family zinc finger 1 mutations
Combined immunodeficiency due to IKAROS deficiency
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
Id783142006
StatusPrimitive
Has interpretationonder referentiebereik
InterpretsPlatelet count
Pathological processafwijkend immuunproces
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map317473
SNOMED CT to ICD-10 extended map
TargetD81.8
RuleTRUE
AdviceALWAYS D81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified