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Autoimmune polyendocrinopathy type 1

^ http://www.orpha.net/ORDO/Orphanet_3453


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

Synonyms: MEDAC syndrome, APS1, Autoimmune polyglandular syndrome type 1, Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome, APS type 1, Multiple endocrine deficiency-Addison disease-candidiasis syndrome, Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome, APECED syndrome, Autoimmune polyendocrine syndrome type 1, HAM syndrome, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Term info

database cross reference
  • UMLS:C3494489 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E31.0 (Inclusion term (The term is included under a ICD10 category and has not its own code))
  • UMLS:C0085859 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:240300 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E31.0 (NTBT (narrower term maps to a broader term))
  • MeSH:C538275 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

UMLS:C0085859, ICD-10:E31.0, OMIM:240300, MeSH:C538275, UMLS:C3494489

notation

ORPHA:3453