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


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
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
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
3663236018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) Finding site Systemic circulatory system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) Is a Secondary hypertension true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) Interprets Blood pressure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) Has interpretation Increased true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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