megaloblastic anemia due to dihydrofolate reductase deficiency

Preferred Label : megaloblastic anemia due to dihydrofolate reductase deficiency;

MeSH synonym : DHFR deficiency;

Origin ID

C565095;

UMLS CUI

C3151205;

Currated CISMeF NLP mapping
- Constitutional megaloblastic anemia with severe neurologic disease [ORDO Disease]
- Megaloblastic anaemia due to dihydrofolate reductase deficiency [ICD-11 More detail]
- Megaloblastic anemia due to dihydrofolate reductase deficiency [OMIM Phenotype]
- Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- anemia, megaloblastic [MeSH Descriptor]
- tetrahydrofolate dehydrogenase [MeSH Descriptor]
Record concept(s)
- megaloblastic anemia due to dihydrofolate reductase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Constitutional megaloblastic anemia with severe neurologic disease [ORDO Disease]
- Megaloblastic anemia due to dihydrofolate reductase deficiency [OMIM Phenotype]
- Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder) [SNOMED CT concept]