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syndroom van auto-immune enteropathie en endocrinopathie met vatbaarheid voor chronische infecties (aandoening)
syndroom van auto-immune enteropathie en endocrinopathie met vatbaarheid voor chronische infecties
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
An extremely rare autosomal dominant immunological disorder with characteristics of variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty and osteoporosis/osteopenia.
Id722288007
StatusPrimitive
Finding sitestructuur van intestinum tenue
Occurrencecongenitaal
Pathological processauto-immuunproces
Finding sitestructuur van endocrien systeem
Occurrencecongenitaal
Pathological processauto-immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetK63.8
RuleTRUE
AdviceALWAYS K63.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE34.8
RuleTRUE
AdviceALWAYS E34.8
CorrelationSNOMED CT source code to target map code correlation not specified