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autosomaal recessieve sideroblastische anemie beginnend op volwassen leeftijd (aandoening)
autosomaal recessieve sideroblastische anemie beginnend op volwassen leeftijd
GLRX5-gerelateerde sideroblastische anemie
aan glutaredoxine-5 gerelateerde sideroblastische anemie
Adult-onset autosomal recessive sideroblastic anemia
GLRX5 (glutaredoxin 5) related sideroblastic anemia
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.
Id720465002
StatusPrimitive
Finding siteerytrocyt
Occurrencevolwassenheid
referentieset met complexe 'mapping' naar ICD-10
TargetD64.0
RuleTRUE
AdviceALWAYS D64.0
CorrelationSNOMED CT source code to target map code correlation not specified