Vitamin B12 deficiency anaemia due to congenital intrinsic factor deficiency

Preferred Label : Vitamin B12 deficiency anaemia due to congenital intrinsic factor deficiency;

ICD-11 definition : Congenital intrinsic factor deficiency is a rare disorder of vitamin B12 (cobalamin) absorption that is characterised by megaloblastic anaemia and neurological abnormalities.;

ICD-11 synonym : Congenital pernicious anaemia;

Details

Origin ID

1528646449;

Currated CISMeF NLP mapping
- Congenital deficiency of intrinsic factor (disorder) [SNOMED CT concept]
- Congenital intrinsic factor deficiency [ORDO Disease]
- Congenital intrinsic factor deficiency [MedDRA Preferred Term]
- Intrinsic factor deficiency [MedDRA Preferred Term]
- Intrinsic factor deficiency [OMIM Phenotype]
- congenital intrinsic factor deficiency [DO Concept]
- intrinsic factor deficiency [MeSH concept]
- intrinsic factor deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Megaloblastic anemia due to inborn errors of metabolism (disorder) [SNOMED CT concept]
- megaloblastic anemia due to inborn errors of metabolism, nos [SNOMED Notion]

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