789063000: Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)

\Aldosterone disorder\Hyperaldosteronism\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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)\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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\Hyperaldosteronism\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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)\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\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\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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)\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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\Hyperaldosteronism\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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)\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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\Hyperaldosteronism\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Aldosterone disorder\Hyperaldosteronism\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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)\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (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\Hyperaldosteronism\Primary aldosteronism\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3786587018 Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3786588011 Primary hyperaldosteronism, seizures, neurological abnormalities syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3786589015 A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3786590012 A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalaemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. 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
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	Is a	Seizure disorder	true	Inferred relationship	Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	2
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	Is a	Primary aldosteronism	true	Inferred relationship	Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3786587018	Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3786588011	Primary hyperaldosteronism, seizures, neurological abnormalities syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3786589015	A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3786590012	A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalaemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core