| thiamineresponsieve encefalopathie (aandoening) | | thiamineresponsieve encefalopathie | | vitamine B1-gevoelige encefalopathie
| | Thiamine-responsive encephalopathy | | A Wernicke-like encephalopathy with characteristics of seizures responsive to high doses of thiamine. Two cases have been described so far. Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia. The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter. Transmission is autosomal recessive. |
| | Id | 723557004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E51.2 | | Term | Encefalopathie van Wernicke |
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| SNOMED CT to Orphanet simple map | 199348 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G94.8 | | Rule | TRUE | | Advice | ALWAYS G94.8 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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