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deficiëntie van 'short chain'-acyl-co-enzym A-dehydrogenase (aandoening)
deficiëntie van 'short chain'-acyl-co-enzym A-dehydrogenase
'short chain'-acyl-CoA-dehydrogenasedeficiëntie
Short chain acyl-coenzyme A dehydrogenase deficiency
Short chain acyl-CoA dehydrogenase deficiency
ACADS - short chain acyl-coenzyme A dehydrogenase deficiency
SCAD - short chain acyl-CoA dehydrogenase deficiency
A very rare inborn error of mitochondrial fatty acid oxidation with characteristics of variable manifestations ranging from asymptomatic individuals to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. In affected individuals manifestations include seizures, developmental delay (delayed sitting/walking and/or speech/social interaction), failure to grow with poor feeding and usually muscle weakness and hypotonia. Caused by mutations in the acyl-CoA dehydrogenase, C-2 to C-3 short chain ACADS gene (12q24.31) along with additional as yet unidentified precipitating factors. Inherited in an autosomal recessive manner.
Id787412002
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE71.3
RuleTRUE
AdviceALWAYS E71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified