" /> 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency - CISMeF





Preferred Label : 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency;

NCIt related terms : Apparent Mineralocorticoid Excess;

Alternative definition : NICHD: Decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s) in the HSD11B2 gene. Resultant elevated cortisol concentrations in the kidney activate the mineralocorticoid receptor, resulting in hypertension, hypokalemia, and hypernatremia.;

NCI Metathesaurus CUI : CL514197;

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07/05/2025


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