| syndroom van ontwikkelingsachterstand, epilepsie en neonatale diabetes (aandoening) | | syndroom van ontwikkelingsachterstand, epilepsie en neonatale diabetes | | DEND-syndroom
| | DEND syndrome | | DEND (developmental delay, epilepsy, neonatal diabetes) syndrome
Developmental delay, epilepsy, neonatal diabetes syndrome
| | A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive. |
| | Id | 721088003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | P70.2 | | Term | Neonatale diabetes mellitus |
| Target | R62.9 | | Term | Achterstand in normale fysiologische ontwikkeling, niet gespecificeerd |
| Target | G40.9 | | Term | Epilepsie, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 79134 |
| SNOMED CT to ICD-10 extended map | | Target | P70.2 | | Rule | TRUE | | Advice | ALWAYS P70.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | R62.9 | | Rule | TRUE | | Advice | ALWAYS R62.9 | | 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 |
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