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recidiverende Neisseria-infectie door factor D-deficiëntie (aandoening)
recidiverende Neisseria-infectie door factor D-deficiëntie
Recurrent Neisseria infection due to factor D deficiency
A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13.
Id783007005
StatusDefined
Causative agentNeisseria
Pathological processinfectieus proces
Clinical courserecidiverend
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map169467
SNOMED CT to ICD-10 extended map
TargetD84.1
RuleTRUE
AdviceALWAYS D84.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified