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syndroom van dyssomnie en verstandelijke beperking gerelateerd aan ankyrine 3-genmutatie (aandoening)
syndroom van dyssomnie en verstandelijke beperking gerelateerd aan ankyrine 3-genmutatie
syndroom van dyssomnie en mentale retardatie gerelateerd aan ANK3-genmutatie
syndroom van slaapstoornis en verstandelijke handicap gerelateerd aan ankyrine 3-genmutatie
ANK3-related intellectual disability, sleep disturbance syndrome
Ankyrin 3 related intellectual disability, sleep disturbance syndrome
A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported.
Id787175002
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG93.8
RuleTRUE
AdviceALWAYS G93.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified