Glycine N-methyltransferase deficiency

Preferred Label : Glycine N-methyltransferase deficiency;

ICD-11 definition : Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.;

ICD-11 synonym : GNMT - [Glycine N-methyltransferase] deficiency; GNMT deficiency;

Détails

Origin ID

16192453;

Automatic exact mappings (from CISMeF team)
- glycine n-methyltransferase [MeSH Descriptor]
Currated CISMeF NLP mapping
- Glycine n-methyltransferase deficiency [OMIM Phenotype]
- Hypermethioninemia [MeSH Supplementary Concept]
- 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 [MeSH concept]
- glycine N-methyltransferase deficiency [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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