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765326001: Familial glucocorticoid deficiency (disorder)

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

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

\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary adrenocortical insufficiency (disorder)\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)

\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary adrenocortical insufficiency (disorder)\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)

\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Primary adrenocortical insufficiency (disorder)\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Primary adrenocortical insufficiency (disorder)\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid 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)\Primary adrenocortical insufficiency (disorder)\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid 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)\Primary adrenocortical insufficiency (disorder)\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Pituitary thyroid hormone resistance\Adrenocorticotropic hormone resistance syndrome\Familial glucocorticoid deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3657918013 Familial glucocorticoid deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3657919017 Familial glucocorticoid deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404525015 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404526019 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterised clinically by neonatal hyperpigmentation, hypoglycaemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. 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 glucocorticoid deficiency (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	false	Inferred relationship	Some
Familial glucocorticoid deficiency (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
Familial glucocorticoid deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Familial glucocorticoid deficiency (disorder)	Is a	Adrenal cortical hypofunction (disorder)	false	Inferred relationship	Some
Familial glucocorticoid deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial glucocorticoid deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Familial glucocorticoid deficiency (disorder)	Is a	Adrenocorticotropic hormone resistance syndrome	true	Inferred relationship	Some
Familial glucocorticoid deficiency (disorder)	Finding site	Thyroid structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3657918013	Familial glucocorticoid deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3657919017	Familial glucocorticoid deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404525015	Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404526019	Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterised clinically by neonatal hyperpigmentation, hypoglycaemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core