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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
Hereditary cryohydrocytosis with normal stomatin is 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.
Id773489008
StatusPrimitive
Associated morphologystomatocyt
Finding siteerytrocyt
Has interpretationaanwezig
Interpretshemolyse
DHD Diagnosis thesaurus reference set
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