LD50.2

ICD-11 MMS 2026-01

Mosaicism, lines with various numbers of X chromosomes

Description

A disease caused by embryonic fusion or gain or loss of X chromosomes early in embryonic development, resulting in a subset of cells in the body having an abnormal number of X chromosomes. This disease may present with abnormal height, genitourinary abnormalities, or may be asymptomatic.

Index terms

  • Mosaicism, lines with various numbers of X chromosomes
  • Sex chromosome mosaics, lines with various numbers of X chromosomes

Exclusions from above levels

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

Sibling codes

  • LD50.0 – Turner syndrome
  • LD50.1 – Karyotype 47,XXX
  • LD50.3 – Klinefelter syndrome
  • LD50.Y – Other specified number anomalies of chromosome X
  • LD50.Z – Number anomalies of chromosome X, unspecified

Foundation entity

Mosaicism, lines with various numbers of X chromosomes – http://id.who.int/icd/entity/145150850

Part of: LD50: Number anomalies of chromosome X › 20: Developmental anomalies