703231005: Familial hyperaldosteronism (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\...

\Disorder of adrenal cortex (disorder)\Primary aldosteronism\Familial hyperaldosteronism

\Aldosterone disorder\Hyperaldosteronism\Primary aldosteronism\Familial hyperaldosteronism

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Primary aldosteronism\Familial hyperaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Aldosterone disorder\Hyperaldosteronism\Primary aldosteronism\Familial hyperaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Primary aldosteronism\Familial hyperaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Aldosterone disorder\Hyperaldosteronism\Primary aldosteronism\Familial hyperaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Primary aldosteronism\Familial hyperaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Aldosterone disorder\Hyperaldosteronism\Primary aldosteronism\Familial hyperaldosteronism
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Primary aldosteronism\Familial hyperaldosteronism
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Aldosterone disorder\Hyperaldosteronism\Primary aldosteronism\Familial hyperaldosteronism

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial hyperaldosteronism
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Familial hyperaldosteronism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial hyperaldosteronism
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Familial hyperaldosteronism
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Primary aldosteronism\Familial hyperaldosteronism
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Aldosterone disorder\Hyperaldosteronism\Primary aldosteronism\Familial hyperaldosteronism
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Primary aldosteronism\Familial hyperaldosteronism
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Aldosterone disorder\Hyperaldosteronism\Primary aldosteronism\Familial hyperaldosteronism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3007909011 Familial hyperaldosteronism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3007954012 Familial hyperaldosteronism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

872421000172118 FH - familial hyperaldosteronism fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

978701000172113 hyperaldostéronisme familial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hyperaldosteronism	Is a	Primary aldosteronism	true	Inferred relationship	Some
Familial hyperaldosteronism	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
Familial hyperaldosteronism	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
Familial hyperaldosteronism	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol.	Is a	True	Familial hyperaldosteronism	Inferred relationship	Some
A genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone.	Is a	True	Familial hyperaldosteronism	Inferred relationship	Some
Familial hyperaldosteronism type 3 (disorder)	Is a	True	Familial hyperaldosteronism	Inferred relationship	Some
A rare familial hyperaldosteronism characterised by elevated aldosterone levels and low plasma renin activity, early-onset hypertension, and hypokalaemia. Developmental delay, learning disabilities, behavioural abnormalities, and attention deficit disorder are observed in some patients.	Is a	True	Familial hyperaldosteronism	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3007909011	Familial hyperaldosteronism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3007954012	Familial hyperaldosteronism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
872421000172118	FH - familial hyperaldosteronism	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
978701000172113	hyperaldostéronisme familial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module