| leukencefalopathie met lichte cerebellaire ataxie en wittestofoedeem (aandoening) | | leukencefalopathie met lichte cerebellaire ataxie en wittestofoedeem | | CLCN2-related leukoencephalopathy | | CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy
Leukoencephalopathy with ataxia
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
| | A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility. |
| | Id | 768663003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E75.2 | | Term | Overige gespecificeerde sfingolipidosen |
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| SNOMED CT to Orphanet simple map | 363540 |
| SNOMED CT to ICD-10 extended map | | Target | E75.2 | | Rule | TRUE | | Advice | ALWAYS E75.2 | 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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