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syndroom van X-gebonden immunodisregulatie, polyendocrinopathie en enteropathie (aandoening)
syndroom van X-gebonden immunodisregulatie, polyendocrinopathie en enteropathie
auto-immuunenteropathie type 1
X-gebonden immuundisregulatie-polyendocrinopathie-enteropathie-syndroom
IPEX-syndroom
X-gebonden auto-immuunenteropathie
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.
Id724276006
StatusPrimitive
Finding sitestructuur van endocrien systeem
Occurrencecongenitaal
Pathological processauto-immuunproces
Finding sitestructuur van intestinum tenue
Occurrencecongenitaal
Pathological processauto-immuunproces
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetE31.0
RuleTRUE
AdviceALWAYS E31.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK63.8
RuleTRUE
AdviceALWAYS K63.8
CorrelationSNOMED CT source code to target map code correlation not specified