| auto-immuun polyglandulair syndroom type 1 (aandoening) | | auto-immuun polyglandulair syndroom type 1 | | APECED-syndroom
| | 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. |
| | Id | 11244009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E31.0 | | Term | Auto-immune polyglandulaire insufficiëntie |
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| SNOMED CT to Orphanet simple map | 3453 |
| SNOMED CT to ICD-10 extended map | | Target | E31.0 | | Rule | TRUE | | Advice | ALWAYS E31.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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