LD2H.4

ICD-11 MMS 2026-01

Usher syndrome

Description

Usher syndrome is the most common cause of hereditary combined deafness-blindness, and is characterised by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.

Index terms

  • Usher syndrome
  • Usher syndrome type 1
  • Usher syndrome type 2
Show allHide
  • Usher syndrome type 3

Exclusions from above levels

  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD2H.0 – Fraser syndrome
  • LD2H.1 – Neuropathy with hearing impairment
  • LD2H.2 – Progressive deafness with stapes fixation
  • LD2H.3 – Waardenburg-Shah syndrome
  • LD2H.Y – Other specified syndromic genetic deafness
  • LD2H.Z – Syndromic genetic deafness, unspecified

Foundation entity

Usher syndrome – http://id.who.int/icd/entity/1452641873

Part of: LD2H: Syndromic genetic deafness › 20: Developmental anomalies