Familial aldosterone deficiency (disorder) | | Familial hypoaldosteronism | | Familial aldosterone deficiency
| | A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. | | familiair hypoaldosteronisme | | familiaal hypoaldosteronisme
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| Id | 715343000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | E27.4 | Rule | TRUE | Advice | ALWAYS E27.4 | Correlation | SNOMED CT source code to target map code correlation not specified |
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