11244009: Polyglandular autoimmune syndrome, type 1 (disorder)

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

\Skin AND/OR mucosa finding (finding)\Mucocutaneous candidiasis (disorder)\Chronic mucocutaneous candidiasis\Polyglandular autoimmune syndrome, type 1

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

\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1

\Disorder of adrenal cortex (disorder)\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\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\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 of adrenal cortex (disorder)\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\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\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1

\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\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\Hereditary disorder of immune system\Polyglandular autoimmune syndrome, type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune endocrine disease\Autoimmune polyendocrinopathy\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Disorder of endocrine system\Autoimmune endocrine disease\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Disorder of endocrine system\Autoimmune endocrine disease\Autoimmune polyendocrinopathy\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Addison's disease\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Disorder of endocrine system\Polyglandular dysfunction AND/OR related disorder (disorder)\Polyglandular dysfunction\Autoimmune polyendocrinopathy\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of body system\Mucocutaneous candidiasis (disorder)\Chronic mucocutaneous candidiasis\Polyglandular autoimmune syndrome, type 1
\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)\Addison's disease\Polyglandular autoimmune syndrome, type 1
\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)\Addison's disease\Polyglandular autoimmune syndrome, type 1
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Autoimmune hypoparathyroidism\Polyglandular autoimmune syndrome, type 1
\Disease\Infectious disease\Chronic infectious disease\Chronic mucocutaneous candidiasis\Polyglandular autoimmune syndrome, type 1
\Disease\Infectious disease\Mycosis\Infection by Ascomycetes\Candidiasis\Mucocutaneous candidiasis (disorder)\Chronic mucocutaneous candidiasis\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\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
19475017 APEDED en Synonym (core metadata concept) Inactive Entire term case sensitive (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
19480014 Blizzard syndrome en Synonym (core metadata concept) Inactive 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
19482018 Hypoparathyroidism, Addison's disease and moniliasis en Synonym (core metadata concept) Inactive 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
19485016 Autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
19486015 APS type 1 en Synonym (core metadata concept) Inactive 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
204861000172115 polyendocrinopathie auto-immune de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
213251000172116 polyglandulair auto-immuun syndroom, type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polyglandular autoimmune syndrome, type 1	Is a	Autoimmune polyendocrinopathy	true	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Disorder of adrenal gland	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Hypoparathyroidism	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Finding site	Structure of multiple endocrine glands	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	4
Polyglandular autoimmune syndrome, type 1	Finding site	Parathyroid structure	true	Inferred relationship	Some	5
Polyglandular autoimmune syndrome, type 1	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Autoimmune hypoparathyroidism	true	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Addison's disease	true	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Autoimmune skin disease	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Chronic mucocutaneous candidiasis	true	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Chronic disease of immune system	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Infectious disease of abdomen	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Associated morphology	Inflammation	false	Inferred relationship	Some	1
Polyglandular autoimmune syndrome, type 1	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Course	Chronic	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Finding site	Mucous membrane structure	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Finding site	Nail structure	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Causative agent	Candida	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Infectious disorder of immune system	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Has definitional manifestation	Decreased hormone secretion	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Finding site	Skin structure	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Endocrine infection	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Finding site	Mucous membrane structure (body structure)	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Chronic disease of immune function (disorder)	true	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Causative agent	Deuteromycete	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Clinical course	Chronic	true	Inferred relationship	Some	6
Polyglandular autoimmune syndrome, type 1	Causative agent	Infectious agent	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Pathological process (attribute)	Infectious process (qualifier value)	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Pathological process (attribute)	Infectious process (qualifier value)	false	Inferred relationship	Some	1
Polyglandular autoimmune syndrome, type 1	Pathological process (attribute)	Infectious process (qualifier value)	true	Inferred relationship	Some	2
Polyglandular autoimmune syndrome, type 1	Finding site	Anatomical or acquired body structure (body structure)	false	Inferred relationship	Some	1
Polyglandular autoimmune syndrome, type 1	Causative agent	Candida	true	Inferred relationship	Some	2
Polyglandular autoimmune syndrome, type 1	Finding site	Mucous membrane structure (body structure)	false	Inferred relationship	Some	3
Polyglandular autoimmune syndrome, type 1	Pathological process (attribute)	Infectious process (qualifier value)	false	Inferred relationship	Some	3
Polyglandular autoimmune syndrome, type 1	Interprets	Hormone secretion	true	Inferred relationship	Some	1
Polyglandular autoimmune syndrome, type 1	Has interpretation	Decreased	true	Inferred relationship	Some	1
Polyglandular autoimmune syndrome, type 1	Finding site	Structure of skin and/or mucous membrane (body structure)	true	Inferred relationship	Some	2
Polyglandular autoimmune syndrome, type 1	Finding site	Structure of multiple endocrine glands	true	Inferred relationship	Some	3
Polyglandular autoimmune syndrome, type 1	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	3
Polyglandular autoimmune syndrome, type 1	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 1	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	4
Polyglandular autoimmune syndrome, type 1	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
19475017	APEDED	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (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
19480014	Blizzard syndrome	en	Synonym (core metadata concept)	Inactive	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
19482018	Hypoparathyroidism, Addison's disease and moniliasis	en	Synonym (core metadata concept)	Inactive	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
19485016	Autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19486015	APS type 1	en	Synonym (core metadata concept)	Inactive	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
204861000172115	polyendocrinopathie auto-immune de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
213251000172116	polyglandulair auto-immuun syndroom, type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)