- Concept UI
- M0442605
- Scope Note
- A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.
- Terms
-
Mineralocorticoid Excess Syndrome, Apparent
Preferred Term
Term UI
T533450
Date02/24/2003
LexicalTag
NON
ThesaurusID
NLM (2004)
-
Cortisol 11-beta-Ketoreductase Deficiency
Term UI
T001132765
Date02/09/2023
LexicalTag
NON
ThesaurusID
ORD (2010)
-
Apparent Mineralocorticoid Excess Syndrome
Term UI
T526967
Date11/25/2002
LexicalTag
NON
ThesaurusID
NLM (2004)