||||||
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE75.2
TermOverige gespecificeerde sfingolipidosen
SNOMED CT to Orphanet simple map137898
SNOMED CT to ICD-10 extended map
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