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pyogene bacteriële infectie door deficiëntie van 'myeloid differentiation primary response 88' (aandoening)
pyogene bacteriële infectie door MyD88-deficiëntie
MyD88-deficiëntie
pyogene bacteriële infectie door deficiëntie van 'myeloid differentiation primary response 88'
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88
Pyogenic bacterial infection due to MyD88 deficiency
A primary immunodeficiency with characteristics of increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Only 24 cases have been reported. The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Myeloid differentiation primary response 88 (MyD88) deficiency results from mutations in the MYD88 gene (3p22-3p21.3) which generally abolishes the cytokine responses of the blood cells. Transmission is autosomal recessive.
Id718232007
StatusPrimitive
Associated morphologypurulente ontsteking
Causative agentpyogene bacterie
Pathological processinfectieus proces
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD84.8
TermOverige gespecificeerde immunodeficiënties
TargetA49.9
TermBacteriële infectie, niet gespecificeerd
SNOMED CT to Orphanet simple map183713
SNOMED CT to ICD-10 extended map
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetA49.9
RuleTRUE
AdviceALWAYS A49.9
CorrelationSNOMED CT source code to target map code correlation not specified