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syndroom van algehele ontwikkelingsachterstand, neuro-oftalmologische afwijking, epileptische aanvallen en verstandelijke beperking (aandoening)
syndroom van algehele ontwikkelingsachterstand, neuro-oftalmologische afwijking, epileptische aanvallen en verstandelijke beperking
syndroom van algehele ontwikkelingsachterstand, neuro-oftalmologische afwijking, convulsies en mentale retardatie
syndroom van algemene ontwikkelingsachterstand, neuro-oftalmologische afwijking, insulten en verstandelijke handicap
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
A rare genetic neurological disorder with characteristics of infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea) or mild dysmorphic features.
Id1172630000
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map488613
SNOMED CT to ICD-10 extended map
TargetF84.8
RuleTRUE
AdviceALWAYS F84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified