LD54

ICD-11 MMS 2026-01

Male with sex chromosome mosaicism

Description

Any disease affecting males, caused by embryonic fusion or gain or loss of a sex chromosome early in embryonic development, resulting in a subset of cells in the body having an abnormal number of sex chromosomes. These diseases may present with deficiencies in testosterone, abnormalities of sexual development, or infertility.

Index terms

  • Male with sex chromosome mosaicism

Exclusions from above levels

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

Sibling codes

  • LD50 – Number anomalies of chromosome X
  • LD51 – Structural anomalies of chromosome X, excluding Turner syndrome
  • LD52 – Number anomalies of chromosome Y
  • LD53 – Structural anomalies of chromosome Y
  • LD55 – Fragile X chromosome
  • LD56 – Chimaera 46, XX, 46, XY
  • LD5Y – Other specified sex chromosome anomalies
  • LD5Z – Sex chromosome anomalies, unspecified

Foundation entity

Male with sex chromosome mosaicism – http://id.who.int/icd/entity/606736067

Part of: 20: Developmental anomalies