| syndroom van X-gebonden immunodisregulatie, polyendocrinopathie en enteropathie (aandoening) | | syndroom van X-gebonden immunodisregulatie, polyendocrinopathie en enteropathie | | IPEX-syndroom
X-gebonden auto-immuunenteropathie
auto-immuunenteropathie type 1
X-gebonden immuundisregulatie-polyendocrinopathie-enteropathie-syndroom
| | X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome | | Autoimmune enteropathy type 1
| | A severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive. |
| | Id | 724276006 | | 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 | 37042 |
| SNOMED CT to ICD-10 extended map | | Target | E31.0 | | Rule | TRUE | | Advice | ALWAYS E31.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | K63.8 | | Rule | TRUE | | Advice | ALWAYS K63.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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