Megaloblastic Anemia 1

Preferred Label : Megaloblastic Anemia 1;

NCIt related terms : MGA-1; Juvenile Megaloblastic Anemia; Imerslund-Gräsbeck Syndrome;

Alternative definition : NICHD: An autosomal recessive disorder caused by mutations in the CUBN or AMN genes. It is characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin, and usually results in megaloblastic anemia appearing in childhood (but not immediately after birth).;

Details

Origin ID

C131677;

UMLS CUI

C4551825;

Automatic exact mappings (from CISMeF team)
- 3-methylglutaconic aciduria type 1 [ORDO Disease]
- 3-methylglutaconic aciduria type 1 [DO Concept]
- 3-methylglutaconic aciduria, type I [OMIM Phenotype]
- Imerslund-grasbeck syndrome [OMIM phenotypic series]
- megaloblastic anemia [DO Concept]
Currated CISMeF NLP mapping
- Imerslund-Graesbeck syndrome [MedDRA LLT]
- Imerslund-Grasbeck syndrome [MeSH Supplementary Concept]
- Imerslund-Grasbeck syndrome [ICD-11 More detail]
- Imerslund-Grasbeck syndrome [MeSH concept]
- Imerslund-Gräsbeck syndrome [ORDO Disease]
- Imerslund-grasbeck syndrome 1 [OMIM Phenotype]
- Selective malabsorption of cyanocobalamin (disorder) [SNOMED CT concept]
- Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuria [ICD-11 More detail]
Disease may have findings
- Pancytopenia [NCIt concept]
False automatic mappings
- 3-methylglutaconic aciduria type 1 [ICD-11 More detail]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Imerslund-Graesbeck syndrome [MedDRA LLT]
- Imerslund-Grasbeck syndrome [MeSH Supplementary Concept]
- Imerslund-Grasbeck syndrome [ICD-11 More detail]
- Imerslund-grasbeck syndrome 1 [OMIM Phenotype]
- Selective malabsorption of cyanocobalamin (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
related_to_genetic_biomarker
- AMN Gene [NCIt concept]
- CUBN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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