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hemochromatose type 3 (aandoening)
hemochromatose type 3
ijzerstapelingsziekte type 3
Hemochromatosis type 3
TFR2 (transferrin receptor 2 gene) related hemochromatosis
A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 3 hemochromatosis concerns middle aged-adults but also adolescents and young adults. It presents with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. The disease is caused by mutations of the transferrin receptor 2 gene (TFR2) on chromosome 7. Transmission is autosomal recessive.
Id719974003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE83.1
RuleTRUE
AdviceALWAYS E83.1
CorrelationSNOMED CT source code to target map code correlation not specified