4A01.23

ICD-11 MMS 2026-01

Primary haemophagocytic lymphohistiocytosis

Description

A disease caused by determinants arising after birth, during the antenatal period or genetically inherited factors leading to uncontrolled proliferation of activated lymphocytes and macrophages. This disease is characterised by increased proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. This disease may present with fever, rash, jaundice, splenomegaly, lymphadenopathy, histiocytosis, haemophagocytosis, or cytopenia.

Index terms

  • Primary haemophagocytic lymphohistiocytosis
  • haemophagocytic lymphohistiocytosis NOS
  • haemophagocytic syndrome
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  • histiocytosis of mononuclear phagocytes
  • Familial haemophagocytic lymphohistiocytosis
  • FEL - [familial erythrophagocytic lymphohistiocytosis]
  • FHL - [familial haemophagocytic lymphohistiocytosis]
  • familial erythrophagocytic lymphohistiocytosis
  • familial haemophagocytic histiocytosis
  • familial histiocytic reticulosis
  • Perforin deficiency
  • FHL1
  • FHL1 - [Familial haemophagocytic lymphohistiocytosis] 1
  • STXBP2 deficiency
  • FHL5
  • FHL5 - [Familial haemophagocytic lymphohistiocytosis] 5
  • Syntaxin deficiency
  • FHL - [Familial haemophagocytic lymphohistiocytosis] 4
  • FHL4
  • UNC13D deficiency
  • FHL - [Familial haemophagocytic lymphohistiocytosis] 3
  • FHL3
  • Griscelli syndrome type 2
  • GS2 (MIM 607624)
  • Hypopigmentation - immunodeficiency, with or without neurological impairment
  • Partial albinism and immunodeficiency syndrome

Inclusions

  • histiocytosis of mononuclear phagocytes

Exclusions from above levels

  • 02 – Neoplasms
  • 18 – Complications of pregnancy, childbirth and the puerperium
  • 20 – Developmental anomalies

Sibling codes

  • 4A01.20 – Immune dysregulation syndromes with hypopigmentation
  • 4A01.21 – Immune dysregulation syndromes presenting primarily with autoimmunity
  • 4A01.22 – Immune dysregulation syndromes presenting primarily with lymphoproliferation
  • 4A01.2Y – Other specified diseases of immune dysregulation
  • 4A01.2Z – Diseases of immune dysregulation, unspecified

Foundation entity

Primary haemophagocytic lymphohistiocytosis – http://id.who.int/icd/entity/1523519942

Part of: 4A01.2: Diseases of immune dysregulation › 4A01: Primary immunodeficiencies due to disorders of adaptive immunity › 04: Diseases of the immune system