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DeCS
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Descriptor English:
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Mineralocorticoid Excess Syndrome, Apparent
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Descriptor Spanish:
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Síndrome de Exceso Aparente de Mineralocorticoides
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Descriptor Portuguese:
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Síndrome de Excesso Aparente de Minerolocorticoides
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Synonyms English:
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Apparent Mineralocorticoid Excess Syndrome
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Tree Number:
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C16.320.565.925.500
C18.452.648.925.500
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Definition English:
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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. |
History Note English:
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2004
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Allowable Qualifiers English:
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Record Number:
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38057
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Unique Identifier:
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D043204
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Occurrence in VHL:
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Similar:
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DeCS
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