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Vasculitis due to adenosine deaminase 2 deficiency (disorder)
Vasculitis due to adenosine deaminase 2 deficiency
Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 (adenosine deaminase 2) deficiency
A rare genetic systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of auto inflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.
vasculitis door adenosinedeaminase 2-deficiƫntie
vaatwandontsteking door ADA2-deficiƫntie
vasculitis door DADA2
Id770687001
StatusPrimitive
Associated morphologyInflammatory morphology
Finding siteBlood vessel structure
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetM30.8
RuleTRUE
AdviceALWAYS M30.8
CorrelationSNOMED CT source code to target map code correlation not specified