|||
Chuvash-erytrocytose (aandoening)
Chuvash-erytrocytose
erytrocytose door mutatie in Von-Hippel-Lindau-gen
Chuvash-polycytemie
Chuvash erythrocytosis
Chuvash polycythemia
Von Hippel Lindau dependent polycythemia
A rare genetic congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25.
Id770407006
StatusPrimitive
Finding siteerytrocyt
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD75.1
RuleTRUE
AdviceALWAYS D75.1
CorrelationSNOMED CT source code to target map code correlation not specified