FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.4-SNAPSHOT | FHIR Version n/a User: [n/a]

715343000: Familial aldosterone deficiency (disorder)

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

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

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

\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Aldosterone deficiency\Familial hypoaldosteronism

\Aldosterone disorder\Aldosterone deficiency\Familial hypoaldosteronism

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hyperreninemic hypoaldosteronism type 2 (disorder)	Is a	True	Familial hypoaldosteronism	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hyperreninemic hypoaldosteronism type 1A	Is a	True	Familial hypoaldosteronism	Inferred relationship	Existential restriction modifier (core metadata concept)

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
3302296010	Familial aldosterone deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
3382151001000119	Hypoaldosteronismus, familiärer	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6148361000241117	hypoaldostéronisme familial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6148371000241113	déficit familial en aldostérone	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6148361000241117	hypoaldostéronisme familial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6148371000241113	déficit familial en aldostérone	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382151001000119	Hypoaldosteronismus, familiärer	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module