Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome

Preferred Label : Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome;

NCIt related terms : XLAAD; X linked Polyendocrinopathy; Immune Dysfunction and Diarrhea Syndrome; IPEX; XPID;

Alternative definition : NICHD: An X-linked recessive autoimmune condition caused by mutation(s) in the FOXP3 gene, encoding the forkhead box P3 transcription factor. The condition is characterized by infantile onset of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Associated features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The condition is usually fatal before age 2 years if not treated with bone marrow transplantation.;

Details

Origin ID

C131009;

UMLS CUI

C0342288;

Automatic exact mappings (from CISMeF team)
- forkhead box P3 [ORDO Gene]
Currated CISMeF NLP mapping
- IPEX syndrome [MedDRA Preferred Term]
- 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 [ICD-11 More detail]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- IPEX syndrome [MedDRA Preferred Term]
- 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]
- 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 Supplementary Concept]
- immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [DO Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- FOXP3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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