Autosomal dominant hereditary disorder
Developmental hereditary disorder
Global developmental delay
Hereditary disorder of nervous system
Intellectual disability
Seizure disorder
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Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)
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.
syndroom van algehele ontwikkelingsachterstand, neuro-oftalmologische afwijking, epileptische aanvallen en verstandelijke beperking
syndroom van algemene ontwikkelingsachterstand, neuro-oftalmologische afwijking, insulten en verstandelijke handicap
syndroom van algehele ontwikkelingsachterstand, neuro-oftalmologische afwijking, convulsies en mentale retardatie
Id1172630000
StatusPrimitive
Finding siteBrain structure
Pathological processPathological developmental process
ICD-10 complex map reference set
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