Hereditary stomatocytosis
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Hereditary cryohydrocytosis with normal stomatin (disorder)
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.
hereditaire cryohydrocytose met normaal stomatine
erfelijke cryohydrocytose met niet-afwijkend stomatine
Id773489008
StatusPrimitive
Associated morphologyStomatocyte
Has interpretationBelow reference range
InterpretsRed blood cell count
Finding siteErythrocyte
Has interpretationBelow reference range
InterpretsMeasurement of total hemoglobin concentration
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD58.8
RuleTRUE
AdviceALWAYS D58.8
CorrelationSNOMED CT source code to target map code correlation not specified