| syndroom van progressieve encefalopathie, oedeem, hypsaritmie en opticusatrofie (aandoening) | | syndroom van progressieve encefalopathie, oedeem, hypsaritmie en opticusatrofie | | PEHO
| | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome | | PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome
PEHO syndrome
| | A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. |
| | Id | 442511009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G31.8 | | Term | Overige gespecificeerde degeneratieve ziekten van zenuwstelsel |
|
| SNOMED CT to Orphanet simple map | 2836 |
| 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 |
|
|
