familial megaloblastic anemia - CISMeF

" /> familial megaloblastic anemia - CISMeF

CISMeF

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Familial megaloblastic anemiaSNOMED Notion

Preferred Label : familial megaloblastic anemia;

Details

Origin ID

DC-12820;

UMLS CUI

C1306856;

CISMeF manual mappings
- Selective malabsorption of cyanocobalamin (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Familial megaloblastic anemia (disorder) [SNOMED CT concept]
- Imerslund-Grasbeck syndrome [MeSH Supplementary Concept]
- Imerslund-Gräsbeck syndrome [ORDO Disease]
ICD-10 exact mapping(s)
- Vitamin B12 deficiency anaemia due to selective vitamin B12 malabsorption with proteinuria [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder [ORDO Disease]
- Disorder of cobalamin metabolism and transport [ORDO Disease]
- Intestinal disease due to vitamin absorption anomaly [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
Metaterm(s)
- genetics [CISMeF Metaterm]
- hematology [CISMeF Metaterm]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial megaloblastic anemia (disorder) [SNOMED CT concept]
- Imerslund-Grasbeck syndrome [MeSH concept]
- Imerslund-Gräsbeck syndrome [ORDO Disease]
- Imerslund-grasbeck syndrome 1 [OMIM Phenotype]
- Juvenile type megaloblastic anemia (disorder) [SNOMED CT concept]
- Megaloblastic anemia due to inborn errors of metabolism (disorder) [SNOMED CT concept]

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24/05/2025

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