3A60.1 Hereditary pure red cell aplasia

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

A condition caused by determinates arising during the antenatal period, leading to a change in the formation of erythrocytes. This condition is characterised by maturation arrest occuring in the formation of erythrocytes. This condition may present with severe anaemia. Confirmation is by identification of decreased red blood cell count in a blood sample.

inclusions

• Blackfan-Diamond anaemia

synonyms

• Hereditary pure red cell aplasia
• Familial hypoplastic anaemia with malformations
• Constitutional pure red cell aplasia
• Blackfan-Diamond anaemia
• Blackfan-Diamond syndrome
• Aase syndrome
• Blackfan-Diamond disease
• Blackfan-Diamond hypoplastic congenital anaemia
• Aase-Smith 2 syndrome
• Aase-Smith II syndrome

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