715343000: Familial aldosterone deficiency (disorder)

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

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

\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)

\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)

\Aldosterone disorder\Aldosterone deficiency\Familial aldosterone deficiency (disorder)

\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\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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)\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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)\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Aldosterone disorder\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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)\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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)\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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\Aldosterone deficiency\Familial aldosterone deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial aldosterone deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial aldosterone deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial aldosterone deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Familial aldosterone deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Aldosterone disorder\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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)\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\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\Aldosterone deficiency\Familial aldosterone deficiency (disorder)
\Disease\Familial disease\Familial aldosterone deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302296010 Familial aldosterone deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302297018 Familial aldosterone deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302298011 Familial hypoaldosteronism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302299015 A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial aldosterone deficiency (disorder)	Is a	Aldosterone deficiency	true	Inferred relationship	Some
Familial aldosterone deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial aldosterone deficiency (disorder)	Is a	Familial disease	true	Inferred relationship	Some
Familial aldosterone deficiency (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Familial aldosterone deficiency (disorder)	Finding site	Adrenal cortex structure	false	Inferred relationship	Some
Familial aldosterone deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Familial aldosterone deficiency (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hyperreninemic hypoaldosteronism type 2 (disorder)	Is a	True	Familial aldosterone deficiency (disorder)	Inferred relationship	Some
Familial hyperreninemic hypoaldosteronism type 1A	Is a	True	Familial aldosterone deficiency (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302296010	Familial aldosterone deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302297018	Familial aldosterone deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302298011	Familial hypoaldosteronism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302299015	A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core