|||
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.
Id721088003
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetP70.2
TermNeonatale diabetes mellitus
TargetR62.9
TermAchterstand in normale fysiologische ontwikkeling, niet gespecificeerd
TargetG40.9
TermEpilepsie, niet gespecificeerd
SNOMED CT to Orphanet simple map79134
SNOMED CT to ICD-10 extended map
TargetP70.2
RuleTRUE
AdviceALWAYS P70.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetR62.9
RuleTRUE
AdviceALWAYS R62.9
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