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2-aminoadipine-2-oxoadipine-acidurie (aandoening)
2-aminoadipine-2-oxoadipine-acidurie
alfa-aminoadipine-acidurie
2-aminoadipic 2-oxoadipic aciduria
Alpha-aminoadipic aciduria
A rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently individuals are completely without clinical phenotype. There is evidence the disease is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.
Id782918002
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE72.3
RuleTRUE
AdviceALWAYS E72.3
CorrelationSNOMED CT source code to target map code correlation not specified