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dicarboxylaminoaciduriesyndroom (aandoening)
dicarboxylaminoaciduriesyndroom
Dicarboxylic aminoaciduria syndrome
Glutamate aspartate transport defect
Characterized by infantile-onset hypoglycemia and hyperprolinemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.
Id716747007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE72.0
RuleTRUE
AdviceALWAYS E72.0
CorrelationSNOMED CT source code to target map code correlation not specified