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familiair hypoaldosteronisme (aandoening)
familiair hypoaldosteronisme
familiaal hypoaldosteronisme
Familial hypoaldosteronism
Familial aldosterone deficiency
A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance.
Id715343000
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE27.4
RuleTRUE
AdviceALWAYS E27.4
CorrelationSNOMED CT source code to target map code correlation not specified