| syndroom van neurologische ontwikkelingsachterstand, epileptische aanvallen, oogheelkundige afwijkingen, osteopenie en cerebellaire atrofie (aandoening) | | syndroom van neurologische ontwikkelingsachterstand, epileptische aanvallen, oogheelkundige afwijkingen, osteopenie en cerebellaire atrofie | | GPAA1-gerelateerd biosynthesedefect
syndroom van neurobiologische ontwikkelingsachterstand, insulten, oftalmologische afwijkingen, osteopenie en cerebellaire atrofie
| | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | | GPAA1-related biosynthesis defect
Glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect
| | A rare genetic syndromic intellectual disability with characteristics of global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated. |
| | Id | 1217381009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 529665 |
| SNOMED CT to ICD-10 extended map | | Target | F79.9 | | Rule | TRUE | | Advice | ALWAYS F79.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
