polyendocrinopathies, autoimmune

Preferred Label : polyendocrinopathies, autoimmune;

MeSH definition : Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present.;

MeSH synonym : autoimmune polyendocrinopathy; polyendocrinopathy, autoimmune;

CISMeF synonym : autoimmune polyendocrinopathies; autoimmune Polyendocrinopathy-Candidiasis-Ectodermal dystrophies; autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophies; dystrophies, autoimmune Polyendocrinopathy-Candidiasis-Ectodermal; dystrophy, autoimmune Polyendocrinopathy-Candidiasis-Ectodermal; Polyendocrinopathy-Candidiasis-Ectodermal dystrophies, autoimmune; Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophies, autoimmune; schmidts syndrome;

MeSH hyponym : polyglandular type I autoimmune syndrome; polyglandular type III autoimmune syndrome; polyglandular type II autoimmune syndrome; Polyglandular Autoimmune Syndrome, Type 3; Autoimmune Syndrome Type III, Polyglandular; Autoimmune Polyglandular Syndrome Type III; Autoimmune Polyglandular Syndrome, Type 3; APECED; APS Type 1; Autoimmune Polyendocrinopathy Syndrome Type 1; Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy; Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy; Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy; Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune; Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy; Autoimmune Polyglandular Syndrome Type I; Autoimmune Polyglandular Syndrome, Type 1; Autoimmune Polyglandular Syndrome, Type I; Autoimmune Syndrome Type I, Polyglandular; Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune; Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune; Polyglandular Autoimmune Syndrome, Type 1; Polyglandular Autoimmune Syndrome, Type I; AIRE Deficiency; AIRE Deficiencies; Deficiency, AIRE; Autoimmune Polyendocrine Syndrome, Type II; Autoimmune Polyglandular Syndrome Type II; Autoimmune Syndrome Type II, Polyglandular; Diabetes Mellitus, Addison Disease, Myxedema; Schmidt's Syndrome; Syndrome, Schmidt's; Multiple Endocrine Deficiency Syndrome, Type 2; Polyendocrine Autoimmune Syndrome, Type II; Polyglandular Autoimmune Syndrome, Type 2; Polyglandular Deficiency Syndrome, Type 2; Schmidt Syndrome; Syndrome, Schmidt; Autoimmune Polyendocrine Syndrome, Type 2; Diabetes Mellitus, Addison's Disease, Myxedema;

MeSH annotation : do not coordinate with specific endocrine disease term or CANDIDIASIS unless particularly discussed;

Wikipedia link : https://en.wikipedia.org/wiki/Polyendocrinopathies, autoimmune;

Details

Origin ID

D016884;

UMLS CUI

C0085409;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- A. Schmidt's syndrome (disorder) [SNOMED CT concept]
- AIRE wt Allele [NCIt concept]
- APECED syndrome [PASCAL descriptor]
- Autoimmune Polyglandular Syndrome Type 2 [NCIt concept]
- Autoimmune polyendocrine syndrome type II [MedDRA LLT]
- Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia [OMIM Phenotype]
- Autoimmune polyendocrine syndrome, type II [OMIM Phenotype]
- Autoimmune polyendocrinopathy type 1 [ICD-11 More detail]
- Autoimmune polyendocrinopathy type 1 [ORDO Disease]
- Autoimmune polyendocrinopathy type 2 [ICD-11 More detail]
- Autoimmune polyendocrinopathy type 2 [ORDO Disease]
- Autoimmune polyendocrinopathy type 3 [ICD-11 More detail]
- Autoimmune polyendocrinopathy type 3 [ORDO Disease]
- Autoimmune polyglandular failure [ICD-10 Sub-category]
- Autoimmune polyglandular failure [ICD-10 Sub-category (who)]
- Polyglandular autoimmune syndrome type II [MedDRA Preferred Term]
- Polyglandular autoimmune syndrome type III [MedDRA Preferred Term]
- Polyglandular autoimmune syndrome, type 1 (disorder) [SNOMED CT concept]
- Polyglandular autoimmune syndrome, type 2 (disorder) [SNOMED CT concept]
- Schmidt's syndrome [MedDRA LLT]
- a. schmidt's syndrome [SNOMED Notion]
- autoimmune polyendocrine syndrome type 1 [DO Concept]
- autoimmune polyendocrine syndrome type 2 [DO Concept]
- autoimmune regulator [HGNC gene]
- autoimmune regulator [ORDO Gene]
- polyglandular autoimmune syndrome, type 1 [SNOMED Notion]
- polyglandular autoimmune syndrome, type 2 [SNOMED Notion]
Currated CISMeF NLP mapping
- Autoimmune Polyendocrinopathy Syndrome [NCIt concept]
- Autoimmune Polyglandular Syndrome [NCIt concept]
- Autoimmune polyendocrinopathy [ICD-11 Category]
- Autoimmune polyendocrinopathy [ORDO Disease]
- Autoimmune polyendocrinopathy (disorder) [SNOMED CT concept]
- autoimmune polyendocrine syndrome [DO Concept]
- autoimmune polyendocrinopathy [Disease (Nov.)]
- autoimmune polyendocrinopathy, nos [SNOMED Notion]
DO Cross reference
- autoimmune polyendocrine syndrome [DO Concept]
Indexing information
- APECED protein [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Acquired chronic primary adrenal insufficiency [ORDO Disease]
- Acquired premature ovarian failure [ORDO Disease]
- Genetic chronic primary adrenal insufficiency [ORDO Disease]
- Genetic hypoparathyroidism [ORDO Disease]
- Genetic polyendocrinopathy [ORDO Disease]
- Immunodeficiency syndrome with autoimmunity [ORDO Disease]
- Polyendocrinopathy [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare hypoparathyroidism [ORDO Disease]
Record concept(s)
- polyendocrinopathies, autoimmune [MeSH concept]
- polyglandular type I autoimmune syndrome [MeSH concept]
- polyglandular type II autoimmune syndrome [MeSH concept]
- polyglandular type III autoimmune syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- autoimmune enteropathy [MeSH Supplementary Concept]
- autoimmune oophoritis [MeSH Supplementary Concept]
- autoimmune polyendocrinopathy syndrome, type 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune Polyendocrinopathy Syndrome [NCIt concept]
- Autoimmune polyendocrinopathy [ORDO Disease]
- Autoimmune polyendocrinopathy [ICD-11 Category]
- Autoimmune polyendocrinopathy (disorder) [SNOMED CT concept]
- Autoimmune polyglandular failure [ICD-10 Sub-category]
- autoimmune polyendocrine syndrome [DO Concept]
- autoimmune polyendocrinopathy [Disease (Nov.)]
- autoimmune polyendocrinopathy, nos [SNOMED Notion]
- lloyd's syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Autoimmune Polyglandular Syndrome Type 1 [NCIt concept]
- Polyglandular autoimmune syndrome type I [MedDRA Preferred Term]
- autoimmune polyglandular syndrome type I [Disease (Nov.)]
- autoimmune polyglandular syndrome type II [Disease (Nov.)]

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