Autosomal dominant hereditary disorder	Erythrocyte enzyme deficiency	Hereditary red blood cell disorder	Stomatocytosis
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Overhydrated hereditary stomatocytosis (disorder)
	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.
	overgehydrateerde hereditaire stomatocytose
	overgehydrateerde erfelijke stomatocytose

Id	722125003
Status	Primitive

Associated morphology

Finding site

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	D58.8
Rule	TRUE
Advice	ALWAYS D58.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified