hereditaire cryohydrocytose met normaal stomatine (aandoening)
hereditaire cryohydrocytose met normaal stomatine
erfelijke cryohydrocytose met niet-afwijkend stomatine
Hereditary cryohydrocytosis with normal stomatin
A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.
Associated morphologystomatocyt
Finding siteerytrocyt
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
AdviceALWAYS D58.8
CorrelationSNOMED CT source code to target map code correlation not specified