3B62.01

ICD-11 MMS 2026-01

Inherited giant platelet disorder

Description

A disease caused by genetically inherited mutations. This disease is characterised by abnormally large platelets, low platelet count and a bleeding tendency. Confirmation is by identification of mutations through genetic testing.

Index terms

  • Inherited giant platelet disorder
  • Bernard-Soulier syndrome
  • Bernard-Soulier thrombopathy
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  • giant platelet syndrome
  • Mediterranean macrothrombocytopenia
  • Macrothrombocytopenia with mitral valve insufficiency

Exclusions from above levels

  • 3B12 – Von Willebrand disease
  • JA43.3 – Postpartum coagulation defects
  • 04 – Diseases of the immune system
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  • 05 – Endocrine, nutritional or metabolic diseases
  • 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

  • 3B62.00 – Alpha-granule diseases
  • 3B62.0Y – Other specified inherited qualitative platelet defects
  • 3B62.0Z – Inherited qualitative platelet defects, unspecified

Foundation entity

Inherited giant platelet disorder – http://id.who.int/icd/entity/2069754587

Part of: 3B62.0: Inherited qualitative platelet defects › 3B62: Qualitative platelet defects › 03: Diseases of the blood or blood-forming organs