| 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 has characteristics of progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. Onset occurs in early childhood. Epilepsy and cognitive decline have also been described. The syndrome is caused by mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. Transmission is autosomal recessive. |
| | 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 |
|
| SNOMED CT to Orphanet simple map | 137898 |
| 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 |
|
|
