autosomaal dominante hereditaire aandoening
gecombineerde immunodeficiëntie
pancytopenie
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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 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.
Id783142006
StatusPrimitive
Has interpretationonder referentiebereik
InterpretsMeasurement of total hemoglobin concentration
Has interpretationonder referentiebereik
Interpretstelling van erytrocyten
Has interpretationonder referentiebereik
InterpretsPlatelet count
Has interpretationonder referentiebereik
Interpretstelling van leukocyten
Pathological processafwijkend immuunproces
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.8
TermOverige gespecificeerde gecombineerde immunodeficiënties
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