methylenetetrahydrofolate reductase deficiency

Preferred Label : methylenetetrahydrofolate reductase deficiency;

MeSH note : Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity;

MeSH synonym : MTHFR deficiency;

Details

Origin ID

C537357;

UMLS CUI

C1856061;

Automatic exact mappings (from CISMeF team)
- 5' 10' Methylenetetrahydrofolate Reductase Deficiency [NCIt concept]
- 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) [SNOMED CT concept]
- Homocystinuria due to methylenetetrahydrofolate reductase deficiency [ICD-11 More detail]
- Methylenetetrahydrofolate reductase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity [OMIM Phenotype]
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency [ORDO Disease]
MeSH term(s) associated for indexing
- homocystinuria [MeSH Descriptor]
- methylenetetrahydrofolate reductase (NADPH2) [MeSH Descriptor]
- muscle spasticity [MeSH Descriptor]
- psychotic disorders [MeSH Descriptor]
Record concept(s)
- Methylenetetrahydrofolate reductase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity [OMIM Phenotype]
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency [ORDO Disease]
- MTHFR deficiency [MedDRA LLT]
- Methylenetetrahydrofolate reductase deficiency [MedDRA Preferred Term]

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