Autoimmune endocrine disease	Autoimmune enteropathy	Congenital disorder of intestine	Congenital immunodeficiency disease	Digestive system hereditary disorder	Hereditary disorder of endocrine system	Hereditary disorder of immune system	Immunodeficiency associated with chromosomal abnormality	X-linked recessive hereditary disease
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X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
	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.
	syndroom van X-gebonden immunodisregulatie, polyendocrinopathie en enteropathie
	auto-immuunenteropathie type 1 X-gebonden immuundisregulatie-polyendocrinopathie-enteropathie-syndroom IPEX-syndroom X-gebonden auto-immuunenteropathie

Id	724276006
Status	Primitive

Associated with

Chromosomal disorder

Finding site	Structure of endocrine system
Occurrence	Congenital
Pathological process	Autoimmune process

Finding site	Structure of small intestine
Occurrence	Congenital
Pathological process	Autoimmune process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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