| syndroom van progressieve encefalopathie, oedeem, hypsaritmie en optische atrofie (aandoening) | | syndroom van progressieve encefalopathie, oedeem, hypsaritmie en optische atrofie | | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome | | PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome
PEHO-like syndrome
| | A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16. |
| | Id | 770678005 | | 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 |
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| SNOMED CT to Orphanet simple map | 99807 |
| 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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