citrullinemie type 1 (aandoening)
citrullinemie type 1
citrullinemie type I
Citrullinemia type I
Citrullinemia type 1
Classic citrullinemia
A rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the ASS1 gene on chromosome 9q34.
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS E72.2
CorrelationSNOMED CT source code to target map code correlation not specified