Homocystinuria due to methylenetetrahydrofolate reductase deficiency

Preferred Label : Homocystinuria due to methylenetetrahydrofolate reductase deficiency;

ICD-11 definition : Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a disorder of folate metabolism characterised by neurological manifestations appearing in the first year of life with severe neurological signs, recurrent apnoea, microcephaly and convulsions, and no megaloblastic anaemia.;

ICD-11 synonym : MTHFR deficiency; Methylenetetrahydrofolate reductase deficiency; MTHFR - [methylenetetrahydrofolate reductase] deficiency;

Details

Origin ID

1119975297;

Automatic exact mappings (from CISMeF team)
- 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) [SNOMED CT 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 [MeSH concept]
- Methylenetetrahydrofolate reductase deficiency [MedDRA Preferred Term]
- methylenetetrahydrofolate reductase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients