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hypermethioninemie door glycine-N-methyltransferasedeficiëntie (aandoening)
hypermethioninemie door glycine-N-methyltransferasedeficiëntie
hypermethioninemie door deficiëntie van glycine-N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase
Glycine N-methyltransferase deficiency
Hypermethioninemia due to GNMT (glycine N-methyltransferase) deficiency
A rare genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. The disease is caused by homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.
Id763720007
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE72.1
RuleTRUE
AdviceALWAYS E72.1
CorrelationSNOMED CT source code to target map code correlation not specified