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ontwikkelingsachterstand door deficiëntie van methylmalonaatsemialdehydedehydrogenase (aandoening)
ontwikkelingsachterstand door deficiëntie van methylmalonaatsemialdehydedehydrogenase
ontwikkelingsachterstand gerelateerd aan ALDH6A1
ontwikkelingsachterstand door MMSDH-deficiëntie
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Developmental delay due to MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency
Developmental delay due to ALDH6A1 (aldehyde dehydrogenase 6 family member A1) deficiency
A rare genetic inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype. Typical characteristics are mild to severe global developmental delay, elevated methylmalonic acid and occasionally lactic acid plasma levels and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (for example beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure and central nervous system abnormalities on MRI have also been reported. Caused by homozygous or compound heterozygous mutation in the ALDH6A1 gene on chromosome 14q24.
Id782828005
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE71.1
RuleTRUE
AdviceALWAYS E71.1
CorrelationSNOMED CT source code to target map code correlation not specified