766937004: Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Cardiovascular finding\Cardiovascular measurement - finding\Hypertensive disorder, systemic arterial (disorder)\Secondary hypertension\A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Hypertensive disorder, systemic arterial (disorder)\Secondary hypertension\A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Hypertensive disorder, systemic arterial (disorder)\Secondary hypertension\A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5404714010 A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404715011 A rare genetic cause of hypertension characterised by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3663230012 Pseudohyperaldosteronism type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3663233014 Early-onset hypertension with exacerbation in pregnancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3663234015 Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3663235019 Hypertension due to gain-of-function mutation in mineralocorticoid receptor en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

934681000172116 hypertension à début précoce accentuée par la grossesse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

981291000172112 hypertension par mutation gain de fonction du récepteur aux minéralocorticoïdes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3428291001000116 Hypertension durch 'gain-of-function'-Mutationen im Mineralocorticoid-Rezeptor de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.	Finding site	Systemic circulatory system structure	true	Inferred relationship	Some	2
A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.	Is a	Secondary hypertension	true	Inferred relationship	Some
A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.	Interprets	Blood pressure	true	Inferred relationship	Some	1
A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.	Has interpretation	Increased	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5404714010	A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404715011	A rare genetic cause of hypertension characterised by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3663230012	Pseudohyperaldosteronism type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663233014	Early-onset hypertension with exacerbation in pregnancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663234015	Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663235019	Hypertension due to gain-of-function mutation in mineralocorticoid receptor	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
934681000172116	hypertension à début précoce accentuée par la grossesse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
981291000172112	hypertension par mutation gain de fonction du récepteur aux minéralocorticoïdes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428291001000116	Hypertension durch 'gain-of-function'-Mutationen im Mineralocorticoid-Rezeptor	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module