Autoimmune polyendocrinopathy type 1

Preferred Label : Autoimmune polyendocrinopathy type 1;

ICD-11 definition : 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.;

ICD-11 synonym : APS type 1; APECED syndrome; HAM syndrome; APECED - [Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome] syndrome; MEDAC syndrome; Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease; APS type 1- [autoimmune polyendocrine syndrome type 1]; Autoimmune polyglandular syndrome type 1; HAM - [Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis] syndrome; Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis; Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome; MEDAC - [Multiple endocrine deficiency - Addison's disease - candidiasis] syndrome; Multiple endocrine deficiency - Addison's disease - candidiasis; autoimmune polyendocrine syndrome type 1;

Details

Origin ID

1646077225;

Automatic exact mappings (from CISMeF team)
- polyendocrinopathies, autoimmune [MeSH Descriptor]
Currated CISMeF NLP mapping
- APECED syndrome [PASCAL descriptor]
- Autoimmune Polyglandular Syndrome Type 1 [NCIt concept]
- Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia [OMIM Phenotype]
- Autoimmune polyendocrinopathy syndrome, type 1 [MeSH concept]
- Autoimmune polyendocrinopathy type 1 [ORDO Disease]
- Polyglandular autoimmune syndrome type I [MedDRA Preferred Term]
- Polyglandular autoimmune syndrome, type 1 (disorder) [SNOMED CT concept]
- autoimmune polyendocrine syndrome type 1 [DO Concept]
- autoimmune polyendocrinopathy syndrome, type 1 [MeSH Supplementary Concept]
- autoimmune polyglandular syndrome type I [Disease (Nov.)]
- polyglandular autoimmune syndrome, type 1 [SNOMED Notion]
- polyglandular type I autoimmune syndrome [MeSH concept]

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