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Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder)
Hypertension due to gain-of-function mutation in mineralocorticoid receptor
Pseudohyperaldosteronism type 2
Early-onset hypertension with exacerbation in pregnancy
A rare genetic hypertension with characteristics of a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.
hypertensie door 'gain-of-function'-mutatie in mineralocorticoïdreceptor
Id766937004
StatusPrimitive
Has interpretationIncreased
InterpretsBlood pressure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetI15.1
RuleTRUE
AdviceALWAYS I15.1
CorrelationSNOMED CT source code to target map code correlation not specified