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11244009: Polyglandular autoimmune syndrome, type 1 (disorder)


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
5444528016 A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. 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 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
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


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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