| 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. |
| | Id | 1217371005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 522077 |
| SNOMED CT to ICD-10 extended map | | Target | F84.8 | | Rule | TRUE | | Advice | ALWAYS F84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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