autoimmune polyendocrinopathy syndrome, type 1

Preferred Label : autoimmune polyendocrinopathy syndrome, type 1;

CISMeF synonym : autoimmune polyendocrinopathy syndrome, type I, autosomal dominant; autoimmune polyendocrinopathy syndrome, type I, with reversible metaphyseal dysplasia; polyglandular deficiency syndrome, Persian-Jewish type;

CISMeF acronym : APS 1; PGA 1;

MeSH synonym : autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; autoimmune polyendocrine syndrome, type 1;

Détails

Origin ID

C538275;

UMLS CUI

C3494489;

Currated CISMeF NLP mapping
- APECED syndrome [PASCAL descriptor]
- Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia [OMIM Phenotype]
- Autoimmune polyendocrinopathy type 1 [ICD-11 More detail]
- 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 polyglandular syndrome type I [Disease (Nov.)]
False automatic mappings
- AP-1 Complex [NCIt concept]
- DNA-(Apurinic or Apyrimidinic Site) Lyase [NCIt concept]
- obsolete HA1 clathrin adaptor [GO term]
MeSH term(s) associated for indexing
- polyendocrinopathies, autoimmune [MeSH Descriptor]
ORDO relation(s)
- Autoimmune polyendocrinopathy type 1 [ORDO Disease]
Record concept(s)
- Autoimmune polyendocrinopathy syndrome, type 1 [MeSH concept]
- autoimmune polyendocrinopathy syndrome, type I, autosomal dominant [MeSH concept]
- autoimmune polyendocrinopathy syndrome, type I, with reversible metaphyseal dysplasia [MeSH concept]
- polyglandular deficiency syndrome, Persian-Jewish type [MeSH concept]
See also inter- (CISMeF)
- Autoimmune Polyglandular Syndrome Type 1 [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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