3B64.01

ICD-11 MMS 2026-01

Hereditary thrombocytopenia

Description

A disease caused by a genetically inherited mutation leading to decreased platelet count. This disease is characterised by decreased levels of platelets within the blood. This disease may present with increased bruising or haemorrhaging. Confirmation is by identification of decreased platelet count in a blood sample.

Index terms

  • Hereditary thrombocytopenia
  • Congenital amegakaryocytic thrombocytopenia
  • MYH9 macrothrombocytopenia syndromes
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  • MYH9-related disease
  • May-Hegglin thrombocytopenia
  • Fechtner syndrome
  • Epstein syndrome
  • Sebastian syndrome
  • Paris-Trousseau thrombocytopenia
  • Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
  • ATRUS - [amegakaryocytic thrombocytopenia radioulnar syndrome]

Exclusions from above levels

  • JA43.3 – Postpartum coagulation defects
  • 04 – Diseases of the immune system
  • 05 – Endocrine, nutritional or metabolic diseases
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  • 18 – Complications of pregnancy, childbirth or the puerperium
  • 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

  • 3B64.00 – Congenital non-inherited thrombocytopenia
  • 3B64.0Z – Congenital thrombocytopenia, unspecified

Foundation entity

Hereditary thrombocytopenia – http://id.who.int/icd/entity/827950289

Part of: 3B64.0: Congenital thrombocytopenia › 3B64: Thrombocytopenia › 03: Diseases of the blood or blood-forming organs