Familial hypoaldosteronism (Q84066)
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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).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_712299654 |
||
| English | Familial hypoaldosteronism |
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). |
Statements
CID11:ID_712299654
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dki-india-ID_712299654
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Concluído
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