syndroom van leukencefalopathie met betrokkenheid van hersenstam en ruggenmerg en hoog lactaatgehalte (aandoening) | | syndroom van leukencefalopathie met betrokkenheid van hersenstam en ruggenmerg en hoog lactaatgehalte | | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome
| | This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. |
| Id | 735421004 | 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 | 137898 |
SNOMED CT to ICD-10 extended map | Target | E88.8 | Rule | TRUE | Advice | ALWAYS E88.8 | 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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