Familial hypoaldosteronism (Q84066): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Deficiência de aldosterona sintase é um defeito herdado raro da etapa final da biossíntese de aldosterona (conversão de desoxicorticosterona em aldosterona), que geralmente se apresenta na infância como um desequilíbrio eletrolítico com risco de vida (deficiência de crescimento, vômitos recorrentes e desidratação grave).
@@ description / en / description / en @@
+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).
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/712299654
@@ Property / Canonical URI: https://id.who.int/icd/entity/712299654 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_712299654
@@ Property / CURIE: CID11:ID_712299654 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_712299654
@@ Property / Canary Token: dki-india-ID_712299654 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest revision as of 09:25, 15 August 2026

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).