DEND - [Developmental delay - epilepsy - neonatal diabetes] syndrome

Preferred Label : DEND - [Developmental delay - epilepsy - neonatal diabetes] syndrome;

ICD-11 definition : DEND (Developmental delay, Epilepsy, and Neonatal Diabetes) syndrome describes a severe form ofneonatal diabetes due to activating mutations in the gene encoding ATP-sensitive potassium channels in the pancreas, muscles, nerves and brain;

ICD-11 synonym : Developmental delay - epilepsy - neonatal diabetes; DEND syndrome;

Détails

Origin ID

31390672;

Currated CISMeF NLP mapping
- DEND syndrome [ORDO Disease]
- Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) [SNOMED CT concept]
- K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes [NCIt concept]
- developmental delay, epilepsy, and neonatal diabetes [MeSH concept]
- developmental delay, epilepsy, and neonatal diabetes [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Diabetes mellitus, permanent neonatal, 1 [OMIM Phenotype]

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