Preferred Label : Familial hypoaldosteronism;
ICD-11 definition : Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone
biosynthesis (conversion of deoxycorticosterone to aldosterone) that usually presents
in infancy as a life-threatening electrolyte imbalance (failure to thrive, recurrent
vomiting, and severe dehydration).;
ICD-11 synonym : Hereditary hypoaldosteronism; Aldosterone synthase deficiency;
Origin ID : 712299654;
Automatic exact mappings (from CISMeF team)
Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone
biosynthesis (conversion of deoxycorticosterone to aldosterone) that usually presents
in infancy as a life-threatening electrolyte imbalance (failure to thrive, recurrent
vomiting, and severe dehydration).
