| syndroom van vroeg optredende progressieve diffuse hersenatrofie, microcefalie, spierzwakte en opticusatrofie (aandoening) | | syndroom van vroeg optredende progressieve diffuse hersenatrofie, microcefalie, spierzwakte en opticusatrofie | | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome | | A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. |
| | Id | 1172593006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 496641 |
| SNOMED CT to ICD-10 extended map | | Target | G31.8 | | Rule | TRUE | | Advice | ALWAYS G31.8 | 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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