| syndroom van diffuse cerebrale en cerebellaire atrofie, therapieresistente epilepsie en progressieve microcefalie (aandoening) | | syndroom van diffuse cerebrale en cerebellaire atrofie, therapieresistente epilepsie en progressieve microcefalie | | Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome | | A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21. |
| | Id | 782737003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G98 | | Term | Overige aandoeningen van zenuwstelsel, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 404437 |
| SNOMED CT to ICD-10 extended map | | Target | G98 | | Rule | TRUE | | Advice | ALWAYS G98 | 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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