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3A01.0 Hereditary vitamin B12 deficiency anaemia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

This is a hereditary low blood level of vitamin B12. It can cause permanent damage to nervous tissue if left untreated long enough. Vitamin B12 itself was discovered through investigation of pernicious anaemia, which is an autoimmune disease that destroys parietal cells in the stomach that secrete intrinsic factor.

synonyms

• Hereditary vitamin B12 deficiency anaemia
• defects of cobalamin metabolism
• megaloblastic anaemia due to hereditary vitamin B12 deficiency
• congenital intrinsic factor deficiency
• Hereditary megaloblastic anaemia due to transcobalamin deficiency
• transcobalamin deficiency
• transcobalamin II deficiency
• Congenital megaloblastic anaemia due to transcobalamin II deficiency
• TCN2 - [transcobalamin II deficiency]
• transcobalamin II deficiency anaemia
• Anaemia due to selective hereditary vitamin B12 malabsorption with proteinuria

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