Hereditary Folate Malabsorption

Preferred Label : Hereditary Folate Malabsorption;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SCL46A1 gene, encoding proton-coupled folate transporter. It is characterized by low concentrations of folate resulting in megaloblastic anemia, immune deficiency, and neurologic deficits.;

Details

Origin ID

C156424;

UMLS CUI

C0342705;

Automatic exact mappings (from CISMeF team)
- Congenital defect of folate absorption (disorder) [SNOMED CT concept]
- Folate malabsorption, hereditary [OMIM Phenotype]
- Hereditary folate malabsorption [ICD-11 More detail]
- Hereditary folate malabsorption [ORDO Disease]
- folate malabsorption, hereditary [MeSH concept]
- folate malabsorption, hereditary [MeSH Supplementary Concept]
- hereditary folate malabsorption [DO Concept]
DO Cross reference
- hereditary folate malabsorption [DO 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 [ORDO Disease]
- congenital defect of folate absorption [SNOMED Notion]
- folate malabsorption, hereditary [MeSH concept]
- folate malabsorption, hereditary [MeSH Supplementary Concept]
- hereditary folate malabsorption [Disease (Nov.)]
- hereditary folate malabsorption [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC46A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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