| 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 with characteristics of early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Additional reported manifestations include seizures, optic atrophy, cortical visual impairment, scoliosis, and dysphagia. Brain imaging shows pontine hypoplasia, partial agenesis of the corpus callosum, and diffuse cerebral atrophy with relative sparing of the cerebellum. |
| | Id | 1169356004 | | Status | Primitive |
| 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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