X-linked immune dysregulation – polyendocrinopathy

Preferred Label : X-linked immune dysregulation – polyendocrinopathy – enteropathy;

ICD-11 definition : Immune dysregulation, Polyendocrinopahy, Enteropathy and X-linked syndrome (IPEX) is a rare disorder occurring in boys and characterized by intractable diarrhea, ichthyosiform dermatitis, early-onset insulin-dependent diabetes mellitus, thyroiditis, hemolytic anemia, variable autoimmune phenomena and severe infections.;

ICD-11 synonym : Autoimmune enteropathy type 1; IPEX - [immunodysregulation polyendocrinopathy enteropathy X-linked syndrome]; immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; immunodysregulation polyendocrinopathy enteropathy X-linked syndrome;

ICD-11 acronym : IPEX;

Details

Origin ID

1060287444;

Automatic exact mappings (from CISMeF team)
- FOXP3 wt Allele [NCIt concept]
- Forkhead Box Protein P3 [NCIt concept]
- Forkhead Box Protein P3 Measurement [NCIt concept]
- forkhead box P3 [ORDO Gene]
Currated CISMeF NLP mapping
- IPEX syndrome [MedDRA Preferred Term]
- Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome [NCIt concept]
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [ORDO Disease]
- Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome [MedDRA LLT]
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked [OMIM Phenotype]
- Immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome [PASCAL descriptor]
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome (disorder) [SNOMED CT concept]
- X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) [SNOMED CT concept]
- immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome [MeSH concept]
- immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome [MeSH Supplementary Concept]
- immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [DO Concept]

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