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Zuidoost-Aziatische ovalocytose (aandoening)
Zuidoost-Aziatische ovalocytose
SAO
Southeast Asian ovalocytosis
Melanesian ovalocytosis
Stomatocytic elliptocytosis
A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.
Id723623002
StatusPrimitive
Associated morphologystomatocyt
Finding siteerytrocyt
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD58.1
RuleTRUE
AdviceALWAYS D58.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified