folate malabsorption, hereditary

Preferred Label : folate malabsorption, hereditary;

MeSH note : mutation in SLC46A1;

MeSH synonym : Congenital Folate Malabsorption; Folic Acid Transport Defect; Hereditary Folate Malabsorption;

Details

Origin ID

C562799;

UMLS CUI

C0342705;

Automatic exact mappings (from CISMeF team)
- Hereditary Folate Malabsorption [NCIt concept]
- Hereditary folate malabsorption [ICD-11 More detail]
- Megaloblastic anemia due to impaired absorption of folate (disorder) [SNOMED CT concept]
- hereditary folate malabsorption [DO Concept]
Currated CISMeF NLP mapping
- Congenital defect of folate absorption (disorder) [SNOMED CT concept]
- Folate malabsorption, hereditary [OMIM Phenotype]
- Hereditary folate malabsorption [ORDO Disease]
- congenital defect of folate absorption [SNOMED Notion]
- hereditary folate malabsorption [Disease (Nov.)]
DO Cross reference
- hereditary folate malabsorption [DO Concept]
MeSH term(s) associated for indexing
- folic acid deficiency [MeSH Descriptor]
- malabsorption syndromes [MeSH Descriptor]
Record concept(s)
- folate malabsorption, hereditary [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital defect of folate absorption (disorder) [SNOMED CT concept]
- Folate malabsorption, hereditary [OMIM Phenotype]
- Hereditary Folate Malabsorption [NCIt concept]
- Hereditary folate malabsorption [ORDO Disease]
- congenital defect of folate absorption [SNOMED Notion]
- hereditary folate malabsorption [Disease (Nov.)]
- hereditary folate malabsorption [DO Concept]

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