| 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. |
| | Id | 1172630000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 488613 |
| 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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