3A60.1

ICD-11 MMS 2026-01

Hereditary pure red cell aplasia

Description

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.

Index terms

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

Inclusions

  • Blackfan-Diamond anaemia

Exclusions from above levels

  • 04 – Diseases of the immune system
  • 05 – Endocrine, nutritional or metabolic diseases
  • 18 – Complications of pregnancy, childbirth or the puerperium
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  • 19 – Certain conditions originating in the perinatal period
  • 20 – Congenital malformations, deformations or chromosomal abnormalities
  • 22 – Injury, poisoning or certain other consequences of external causes
  • http://id.who.int/icd/entity/1000704511 – Human immunodeficiency virus disease
  • JB64.1 – Other diseases of the blood or blood-forming organs or certain disorders involving the immune mechanism complicating pregnancy, childbirth or the puerperium

Sibling codes

  • 3A60.0 – Congenital non-inherited pure red cell aplasia
  • 3A60.Z – Congenital pure red cell aplasia, unspecified

Foundation entity

Hereditary pure red cell aplasia – http://id.who.int/icd/entity/1191963445

Part of: 3A60: Congenital pure red cell aplasia › 03: Diseases of the blood or blood-forming organs