11244009: Polyglandular autoimmune syndrome, type 1 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Mucocutaneous candidiasis\Chronic mucocutaneous candidiasis (disorder)\Polyglandular autoimmune syndrome, type 1
• \Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland (disorder)\...
• \Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\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)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Finding of trunk structure\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)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Finding of trunk structure\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)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Finding of neck region\Disease of neck\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
• \Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
• \Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Polyglandular autoimmune syndrome, type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of immune function (disorder)\Chronic disease of immune function (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune endocrine disease (disorder)\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune endocrine disease (disorder)\Autoimmune polyendocrinopathy (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Autoimmune endocrine disease (disorder)\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Autoimmune endocrine disease (disorder)\Autoimmune polyendocrinopathy (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Polyglandular dysfunction AND/OR related disorder (disorder)\Polyglandular dysfunction\Autoimmune polyendocrinopathy (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Disorder of body system\Mucocutaneous candidiasis\Chronic mucocutaneous candidiasis (disorder)\Polyglandular autoimmune syndrome, type 1
• \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)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \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)\Addison's disease\Polyglandular autoimmune syndrome, type 1
• \Disease\Disease of neck\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
• \Disease\Infectious disease\Chronic infectious disease\Chronic mucocutaneous candidiasis (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Infectious disease\Mycosis (disorder)\Infection caused by Ascomycetes (disorder)\Candidiasis (disorder)\Mucocutaneous candidiasis\Chronic mucocutaneous candidiasis (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Chronic disease\Chronic disease of immune function (disorder)\Polyglandular autoimmune syndrome, type 1
• \Disease\Chronic disease\Chronic infectious disease\Chronic mucocutaneous candidiasis (disorder)\Polyglandular autoimmune syndrome, type 1

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
19474018	Polyglandular autoimmune syndrome, type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19476016	Polyglandular deficiency associated with mucocutaneous candidiasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19477013	Hypoparathyroidism, Addison's disease AND moniliasis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19478015	Autoimmune polyendocrinopathy, candidosis AND ectodermal dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19479011	Candidiasis-endocrinopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19481013	HAM syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
19483011	Juvenile familial endocrinopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19484017	Whitaker syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
372533015	Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
372534014	Polyglandular autoimmune syndrome - type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
372535010	Type 1 polyendocrine autoimmunity syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
372536011	Hypoadrenocorticism, hypoparathyroidism and superficial moniliasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
372537019	APECED - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
640170013	Polyglandular autoimmune syndrome, type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4543087014	A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
19474018	Polyglandular autoimmune syndrome, type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19474018	Polyglandular autoimmune syndrome, type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19475017	APEDED	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
19476016	Polyglandular deficiency associated with mucocutaneous candidiasis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19476016	Polyglandular deficiency associated with mucocutaneous candidiasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19477013	Hypoparathyroidism, Addison's disease AND moniliasis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19478015	Autoimmune polyendocrinopathy, candidosis AND ectodermal dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19479011	Candidiasis-endocrinopathy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19479011	Candidiasis-endocrinopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19480014	Blizzard syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19480014	Blizzard syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19481013	HAM syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
19483011	Juvenile familial endocrinopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19483011	Juvenile familial endocrinopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19484017	Whitaker syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
19486015	APS type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
372533015	Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
372533015	Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
372534014	Polyglandular autoimmune syndrome - type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
372534014	Polyglandular autoimmune syndrome - type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
372535010	Type 1 polyendocrine autoimmunity syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
372536011	Hypoadrenocorticism, hypoparathyroidism and superficial moniliasis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
372536011	Hypoadrenocorticism, hypoparathyroidism and superficial moniliasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
372537019	APECED - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
640170013	Polyglandular autoimmune syndrome, type 1 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
640170013	Polyglandular autoimmune syndrome, type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4543087014	A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3449671001000112	Autoimmun-Polyendokrinopathie Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
204861000172115	polyendocrinopathie auto-immune de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1056351000241110	syndrome polyglandulaire auto-immun de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
204861000172115	polyendocrinopathie auto-immune de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1056351000241110	syndrome polyglandulaire auto-immun de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449671001000112	Autoimmun-Polyendokrinopathie Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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