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deficiëntie van 'dedicator van cytokinesis 2' (aandoening)
deficiëntie van 'dedicator van cytokinesis 2'
DOCK2-deficiëntie
deficiëntie van DOCK2
DOCK2 deficiency
Dedicator of cytokinesis 2 deficiency
A rare primary combined T and B cell immunodeficiency with characteristics of early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.
Id1197479002
StatusPrimitive
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map447737
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