vasculitis door adenosinedeaminase 2-deficiëntie (aandoening)
vasculitis door adenosinedeaminase 2-deficiëntie
vaatwandontsteking door ADA2-deficiëntie
vasculitis door DADA2
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.
Pathological processafwijkend immuunproces
Associated morphologyinflammatoire morfologie
Finding sitestructuur van bloedvat
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS M30.8
CorrelationSNOMED CT source code to target map code correlation not specified