| syndroom van vroeg optredende epilepsie, verstandelijke beperking en afwijking van hersenen (aandoening) | | syndroom van vroeg optredende epilepsie, verstandelijke beperking en afwijking van hersenen | | syndroom van vroeg optredende epilepsie, mentale retardatie en hersenafwijking
syndroom van vroeg optredende epilepsie, verstandelijke handicap en hersenafwijking
| | Early-onset epilepsy, intellectual disability, brain anomalies syndrome | | Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency
PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency
Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency
| | A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum. |
| | Id | 1172627007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 488635 |
| SNOMED CT to ICD-10 extended map | | Target | E77.8 | | Rule | TRUE | | Advice | ALWAYS E77.8 | 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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