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ijzerrefractaire ijzerdeficiƫntieanemie (aandoening)
ijzerrefractaire ijzerdeficiƫntieanemie
IRIDA-syndroom
Iron-refractory iron deficiency anemia
IRIDA syndrome
IRIDA (iron-refractory iron deficiency anemia) syndrome
A rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive.
Id722005000
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetD50.8
RuleTRUE
AdviceALWAYS D50.8
CorrelationSNOMED CT source code to target map code correlation not specified