| familiair hypoaldosteronisme (aandoening) | | familiair hypoaldosteronisme | | familiaal hypoaldosteronisme
| | 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. |
| | Id | 715343000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E27.4 | | Term | Overige en niet gespecificeerde bijnierschorsinsufficiëntie |
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| SNOMED CT to Orphanet simple map | 427 |
| SNOMED CT to ICD-10 extended map | | 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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