| syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke beperking en faciale dysmorfie (aandoening) | | syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke beperking en faciale dysmorfie | | syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke handicap en faciale dysmorfie
syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, mentale retardatie en faciale dysmorfie
| | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | | Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome
| | A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. |
| | Id | 773548008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G40.4 | | Term | Overige vormen van gegeneraliseerde epilepsie en epileptische syndromen |
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| SNOMED CT to Orphanet simple map | 411986 |
| SNOMED CT to ICD-10 extended map | | Target | G40.4 | | Rule | TRUE | | Advice | ALWAYS G40.4 | 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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