auto-immuun polyglandulair syndroom type 1 (aandoening)
auto-immuun polyglandulair syndroom type 1
Polyglandular autoimmune syndrome, type 1
Polyglandular autoimmune syndrome - type 1
Hypoadrenocorticism, hypoparathyroidism and superficial moniliasis
Whitaker syndrome
Hypoparathyroidism, Addison's disease AND moniliasis
Polyglandular deficiency associated with mucocutaneous candidiasis
APECED - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Autoimmune polyendocrinopathy, candidosis AND ectodermal dystrophy
Candidiasis-endocrinopathy syndrome
Juvenile familial endocrinopathy
Type 1 polyendocrine autoimmunity syndrome
HAM syndrome
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive.
Finding sitestructuur van bijnierschors
Pathological processauto-immuunproces
Finding sitestructuur van bijschildklier
Pathological processauto-immuunproces
Clinical coursechronisch
Causative agentgenus Candida
Finding sitestructuur van huid en/of slijmvlies
Pathological processinfectieus proces
Has interpretationverlaagd
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermAuto-immune polyglandulaire insuffici├źntie
SNOMED CT to Orphanet simple map3453
SNOMED CT to ICD-10 extended map
AdviceALWAYS E31.0
CorrelationSNOMED CT source code to target map code correlation not specified