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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.
Id735421004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified