glycine N-Methyltransferase deficiency

Preferred Label : glycine N-Methyltransferase deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0564983;

UMLS CUI

C1847720;

Currated CISMeF NLP mapping
- Glycine N-methyltransferase deficiency [ICD-11 More detail]
- Glycine n-methyltransferase deficiency [OMIM Phenotype]
- Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder) [SNOMED CT concept]
- Hypermethioninemia due to glycine N-methyltransferase deficiency [ORDO Disease]
- glycine N-methyltransferase deficiency [DO Concept]
MeSH narrower concept(s)
- hypermethioninemia [MeSH concept]
Related record
- Hypermethioninemia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycine n-methyltransferase deficiency [OMIM Phenotype]
- Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder) [SNOMED CT concept]
- Hypermethioninemia due to glycine N-methyltransferase deficiency [ORDO Disease]