Hypermethioninemia

Preferred Label : Hypermethioninemia;

MeSH note : mutation in GNMT;

MeSH synonym : methioninemia;

MeSH hyponym : GNMT Deficiency; S-Adenosylhomocysteine Hydrolase Deficiency; Deficiency of Methionine Adenosyltransferase; Hepatic Methionine Adenosyltransferase Deficiency; Hypermethioninemia, Isolated Persistent; glycine N-Methyltransferase deficiency;

Details

Origin ID

C564683;

UMLS CUI

C4048705;

Automatic exact mappings (from CISMeF team)
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
- Deficiency of methionine adenosyltransferase (disorder) [SNOMED CT concept]
- Hepatic methionine adenosyltransferase deficiency (disorder) [SNOMED CT concept]
- Methionine Adenosyltransferase Deficiency [NCIt concept]
- Methionine adenosyltransferase I/iii deficiency [OMIM Phenotype]
- S-adenosylhomocysteine hydrolase deficiency [ORDO Disease]
- hepatic methionine adenosyltransferase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Glycine N-methyltransferase deficiency [ICD-11 More detail]
- Glycine n-methyltransferase deficiency [OMIM Phenotype]
- Hypermethioninaemia [MedDRA Preferred Term]
- Hypermethioninemia [PASCAL descriptor]
- Hypermethioninemia [HPO term]
- Hypermethioninemia [MedDRA LLT]
- Hypermethioninemia (disorder) [SNOMED CT concept]
- Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder) [SNOMED CT concept]
- Hypermethioninemia due to glycine N-methyltransferase deficiency [ORDO Disease]
- Methioninaemia [ICD-11 More detail]
- glycine N-methyltransferase deficiency [DO Concept]
- hypermethioninemia [DO Concept]
- hypermethioninemia [Disease (Nov.)]
- hypermethioninemia, nos [SNOMED Notion]
HPO term
- Hypermethioninemia [HPO term]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- glycine n-methyltransferase [MeSH Descriptor]
Record concept(s)
- glycine N-Methyltransferase deficiency [MeSH concept]
- hypermethioninemia [MeSH concept]
- hypermethioninemia with deficiency of S-Adenosylhomocysteine hydrolase [MeSH concept]
- methionine adenosyltransferase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypermethioninaemia [MedDRA Preferred Term]
- Hypermethioninemia [HPO term]
- Hypermethioninemia [MedDRA LLT]
- Hypermethioninemia [PASCAL descriptor]
- Hypermethioninemia (disorder) [SNOMED CT concept]
- Methioninaemia [ICD-11 More detail]
- hypermethioninemia [DO Concept]
- hypermethioninemia [Disease (Nov.)]
Validated automatic mappings to BTNT
- Deficiency of S-adenosylhomocysteine hydrolase (disorder) [SNOMED CT concept]

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