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Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder)
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 with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12.
pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1
pancytopenie door IKZF1-mutaties
Id783142006
StatusPrimitive
Has interpretationBelow reference range
InterpretsRed blood cell count
Has interpretationBelow reference range
InterpretsPlatelet count
Pathological processAbnormal immune process
Has interpretationAbnormal
InterpretsHemostatic function
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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