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familiaire pseudohyperkaliëmie (aandoening)
familiaire pseudohyperkaliëmie
familiale pseudohyperkaliëmie
Familial pseudohyperkalemia
An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. Not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. All families identified so far have mutations in the ABCB6 gene (2q36), leading to an inherited abnormality in the movement of ions across the red cell membrane, such that when the red cells are cooled they lose potassium into the plasma. Inherited as an autosomal dominant trait. The prognosis is excellent most patients remain asymptomatic.
Id717254007
StatusPrimitive
Associated morphologystomatocyt
Finding siteerytrocyt
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