| syndroom van vroeg optredende progressieve encefalopathie, gehoorverlies, hypoplasie van pons en atrofie van hersenen (aandoening) | | syndroom van vroeg optredende progressieve encefalopathie, gehoorverlies, hypoplasie van pons en atrofie van hersenen | | syndroom van vroeg optredende progressieve encefalopathie, gehoorverlies, hypoplasie van pons en hersenatrofie
| | Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome | | A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. |
| | Id | 1169356004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q07.8 | | Term | Overige gespecificeerde congenitale misvormingen van zenuwstelsel |
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| SNOMED CT to Orphanet simple map | 500144 |
| SNOMED CT to ICD-10 extended map | | Target | Q07.8 | | Rule | TRUE | | Advice | ALWAYS Q07.8 | 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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