mthfr deficiency, thermolabile type - CISMeF

" /> mthfr deficiency, thermolabile type - CISMeF

CISMeF

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Mthfr deficiency, thermolabile typeMeSH Supplementary Concept

Preferred Label : mthfr deficiency, thermolabile type;

MeSH note : mutation in MTHFR;

Details

Origin ID

C565512;

UMLS CUI

C1856059;

Automatic exact mappings (from CISMeF team)
- Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity [OMIM Phenotype]
MeSH term(s) associated for indexing
- homocystinuria [MeSH Descriptor]
- methylenetetrahydrofolate reductase (NADPH2) [MeSH Descriptor]
Record concept(s)
- mthfr deficiency, thermolabile type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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25/05/2025

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