||||
syndroom van coeliakie, epilepsie en cerebrale calcificatie (aandoening)
syndroom van coeliakie, epilepsie en cerebrale calcificatie
syndroom van coeliakie, epilepsie en cerebrale verkalking
Celiac disease with epilepsy and cerebral calcification syndrome
A rare disorder characterized by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Celiac disease and epilepsy manifest at a variable age. Celiac disease can present in a typical form with onset in the first 2 years of life. Celiac disease may also present in silent or latent forms, which are characterized in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of celiac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes.
Id722386009
StatusPrimitive
Associated morphologypathologische calcificatie
Finding sitestructuur van cerebrum
Causative agentgluten
Finding sitestructuur van intestinum
Pathological processauto-immuunproces
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetK90.0
RuleTRUE
AdviceALWAYS K90.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG40.9
RuleTRUE
AdviceALWAYS G40.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG93.8
RuleTRUE
AdviceALWAYS G93.8
CorrelationSNOMED CT source code to target map code correlation not specified