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overgehydrateerde hereditaire stomatocytose (aandoening)
overgehydrateerde hereditaire stomatocytose
overgehydrateerde erfelijke stomatocytose
Overhydrated hereditary stomatocytosis
A disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.
Id722125003
StatusPrimitive
Associated morphologystomatocyt
Finding siteerytrocyt
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD58.8
RuleTRUE
AdviceALWAYS D58.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified