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vasculitis door adenosinedeaminase 2-deficiëntie (aandoening)
vasculitis door adenosinedeaminase 2-deficiëntie
vasculitis door DADA2
vaatwandontsteking door ADA2-deficiëntie
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.
Id770687001
StatusPrimitive
Associated morphologyinflammatoire morfologie
Finding sitestructuur van bloedvat
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetM30.8
TermOverige aandoeningen verwant aan polyarteriitis nodosa
SNOMED CT to Orphanet simple map404553
SNOMED CT to ICD-10 extended map
TargetM30.8
RuleTRUE
AdviceALWAYS M30.8
CorrelationSNOMED CT source code to target map code correlation not specified