| 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 | | Hypermethioninemia due to GNMT (glycine N-methyltransferase) deficiency
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. |
| | Id | 763720007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E72.1 | | Term | Stofwisselingsstoornissen van zwavelhoudende aminozuren |
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| SNOMED CT to Orphanet simple map | 289891 |
| SNOMED CT to ICD-10 extended map | | Target | E72.1 | | Rule | TRUE | | Advice | ALWAYS E72.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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