||||||||||||
syndroom van infantiele hypotonie, oculomotorische afwijkingen, hyperkinesie en ontwikkelingsachterstand (aandoening)
syndroom van infantiele hypotonie, oculomotorische afwijkingen, hyperkinesie en ontwikkelingsachterstand
Baker-Gordon-syndroom
SYT1-gerelateerde neurologische ontwikkelingsstoornis
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome
SYT1-related neurodevelopmental disorder
Baker Gordon syndrome
Synaptotagmin 1-related neurodevelopmental disorder
A rare genetic neurological disorder with characteristics of infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.
Id1217371005
StatusPrimitive
InterpretsMovement
Has interpretationverlaagd
Interpretsspiertonus
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