Autoimmune polyendocrine syndrome, type II

Preferred Label : Autoimmune polyendocrine syndrome, type II;

Symbol : APS2;

CISMeF acronym : APS2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Schmidt syndrome; Pga II; Aps II; Diabetes mellitus, addison disease, myxedema; Polyglandular autoimmune syndrome, type II; Polyendocrine autoimmune syndrome, type II;

Description : Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).;

Inheritance : Autosomal recessive vs. autosomal dominant or multifactorial;

Prefixed ID : %269200;

Details

Origin ID

269200;

UMLS CUI

C0085860;

Automatic exact mappings (from CISMeF team)
- A. Schmidt's syndrome (disorder) [SNOMED CT concept]
- Autoimmune polyglandular failure [ICD-10 Sub-category]
- KLK3 wt Allele [NCIt concept]
- SH2B Adapter Protein 2 [NCIt concept]
- SH2B2 Gene [NCIt concept]
- a. schmidt's syndrome [SNOMED Notion]
- polyendocrinopathies, autoimmune [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autoimmune Polyglandular Syndrome Type 2 [NCIt concept]
- Autoimmune polyendocrine syndrome type II [MedDRA LLT]
- Autoimmune polyendocrinopathy type 2 [ICD-11 More detail]
- Autoimmune polyendocrinopathy type 2 [ORDO Disease]
- Polyglandular autoimmune syndrome type II [MedDRA Preferred Term]
- Polyglandular autoimmune syndrome, type 2 (disorder) [SNOMED CT concept]
- Schmidt's syndrome [MedDRA LLT]
- autoimmune polyendocrine syndrome type 2 [DO Concept]
- autoimmune polyglandular syndrome type II [Disease (Nov.)]
- polyglandular autoimmune syndrome, type 2 [SNOMED Notion]
- polyglandular type II autoimmune syndrome [MeSH concept]
DO Cross reference
- autoimmune polyendocrine syndrome type 2 [DO Concept]
False automatic mappings
- prostaglandins A [MeSH Descriptor]
HPO term(s)
- Abnormality of the respiratory system [HPO term]
- Addison disease [HPO term]
- Alopecia [HPO term]
- Asplenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Band keratopathy [HPO term]
- Cataract [HPO term]
- Chronic hepatitis [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Cirrhosis [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Hepatitis [HPO term]
- Hyperthyroidism [HPO term]
- Hypothyroidism [HPO term]
- Iron deficiency anemia [HPO term]
- Keratoconjunctivitis [HPO term]
- Multifactorial inheritance [HPO term]
- Pancreatic insufficiency [HPO term]
- Primary adrenal insufficiency [HPO term]
- Seizure [HPO term]
- Steatorrhea [HPO term]
- Tetany [HPO term]
- Thymoma [HPO term]
- Type II diabetes mellitus [HPO term]
ORDO concept(s)
- Autoimmune polyendocrinopathy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune Polyglandular Syndrome Type 2 [NCIt concept]
- Autoimmune polyendocrine syndrome type II [MedDRA LLT]
- Autoimmune polyendocrinopathy type 2 [ORDO Disease]
- Polyglandular autoimmune syndrome type II [MedDRA Preferred Term]
- Polyglandular autoimmune syndrome, type 2 (disorder) [SNOMED CT concept]
- Schmidt's syndrome [MedDRA LLT]
- autoimmune polyendocrine syndrome type 2 [DO Concept]
- autoimmune polyglandular syndrome type II [Disease (Nov.)]
- polyglandular autoimmune syndrome, type 2 [SNOMED Notion]
- polyglandular type II autoimmune syndrome [MeSH concept]

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