| 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. |
| | Id | 722386009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G40.9 | | Term | Epilepsie, niet gespecificeerd |
| Target | G93.8 | | Term | Overige gespecificeerde hersenaandoeningen |
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| SNOMED CT to Orphanet simple map | 1459 |
| SNOMED CT to ICD-10 extended map | | Target | K90.0 | | Rule | TRUE | | Advice | ALWAYS K90.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G40.9 | | Rule | TRUE | | Advice | ALWAYS G40.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G93.8 | | Rule | TRUE | | Advice | ALWAYS G93.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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