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infantiele inflammatoire darmziekte met neurologische betrokkenheid (aandoening)
infantiele inflammatoire darmziekte met neurologische betrokkenheid
infantiele IBD met neurologische betrokkenheid
Infantile inflammatory bowel disease with neurological involvement
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation as well as decreased T-cell subsets have been reported.
Id1186721005
StatusPrimitive
Associated morphologyinflammatoire morfologie
Occurrencezuigelingenperiode
Pathological processontregelde gastheerrespons
Associated morphologyatrophia
Finding sitestructuur van cerebrum
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map565788
SNOMED CT to ICD-10 extended map
TargetK52.9
RuleTRUE
AdviceALWAYS K52.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified