715343000: Familial aldosterone deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hypoadrenalism\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism

\Disorder of adrenal cortex\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism

\Aldosterone disorder\Aldosterone deficiency\Familial hypoaldosteronism

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Aldosterone disorder\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Aldosterone disorder\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Aldosterone disorder\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Aldosterone disorder\Aldosterone deficiency\Familial hypoaldosteronism

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial hypoaldosteronism
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial hypoaldosteronism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial hypoaldosteronism
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Familial hypoaldosteronism
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Aldosterone disorder\Aldosterone deficiency\Familial hypoaldosteronism
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Aldosterone deficiency\Familial hypoaldosteronism
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Aldosterone disorder\Aldosterone deficiency\Familial hypoaldosteronism
\Disease\Familial disease\Familial hypoaldosteronism

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3302297018 Familial aldosterone deficiency en Synonym Active Case insensitive SNOMED CT core

3302298011 Familial hypoaldosteronism en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hyperreninaemic hypoaldosteronism type 2	Is a	True	Familial hypoaldosteronism	Inferred relationship	Some
Familial hyperreninaemic hypoaldosteronism type 1A	Is a	True	Familial hypoaldosteronism	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302296010	Familial aldosterone deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302297018	Familial aldosterone deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3302298011	Familial hypoaldosteronism	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core