Autosomal recessive hereditary disorder
Congenital disease
Congenital neurological disorder
Disorder of basal ganglia
Hereditary disorder of nervous system
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Biotin-thiamine-responsive basal ganglia disease (disorder)
Biotin-thiamine-responsive basal ganglia disease
Biotin-responsive basal ganglia disease
Thiamine metabolism dysfunction syndrome 2
Thiamine transporter-2 deficiency
biotine-responsieve basale ganglia-ziekte
Id703522009
StatusPrimitive
OccurrenceCongenital
Finding siteBasal ganglion structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG25.8
RuleTRUE
AdviceALWAYS G25.8
CorrelationSNOMED CT source code to target map code correlation not specified