Autosomal recessive hereditary disorder
Disorder of brain
Inherited metabolic disorder of nervous system
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Thiamine-responsive encephalopathy (disorder)
Thiamine-responsive encephalopathy
A Wernicke-like encephalopathy with characteristics of seizures responsive to high doses of thiamine. Two cases have been described so far. Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia. The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter. Transmission is autosomal recessive.
thiamineresponsieve encefalopathie
vitamine B1-gevoelige encefalopathie
Id723557004
StatusPrimitive
Finding siteBrain structure
OccurrenceCongenital
ICD-10 complex map reference set
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG94.8
RuleTRUE
AdviceALWAYS G94.8 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
CorrelationSNOMED CT source code to target map code correlation not specified