hereditaire stomatocytose
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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.
Id773489008
StatusPrimitive
Associated morphologystomatocyt
Has interpretationonder referentiebereik
Interpretstelling van erytrocyten
Finding siteerytrocyt
Has interpretationonder referentiebereik
InterpretsMeasurement of total hemoglobin concentration
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD58.8
TermOverige gespecificeerde hereditaire hemolytische anemieën
SNOMED CT to Orphanet simple map398088
SNOMED CT to ICD-10 extended map
TargetD58.8
RuleTRUE
AdviceALWAYS D58.8
CorrelationSNOMED CT source code to target map code correlation not specified