LD50.0

ICD-11 MMS 2026-01

Turner syndrome

Description

Karyotype missing one X chromosome (45,X0 or 45,X0/46,XX mosaicism); gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotropic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities.

Index terms

  • Turner syndrome
  • Monosomy X
  • Ullrich-Turner syndrome
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  • X0 syndrome

Inclusions

  • Monosomy X

Excludes

Exclusions from above levels

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

Child codes

  • LD50.00 – Karyotype 45, X
  • LD50.01 – Karyotype 46, X iso Xq
  • LD50.02 – Karyotype 46, X with abnormal sex chromosome, except iso Xq
  • LD50.03 – Mosaicism, 45, X, 46, XX or XY
  • LD50.04 – Mosaicism, 45, X or other cell line with abnormal sex chromosome

Sibling codes

  • LD50.1 – Karyotype 47,XXX
  • LD50.2 – Mosaicism, lines with various numbers of X chromosomes
  • LD50.3 – Klinefelter syndrome
  • LD50.Y – Other specified number anomalies of chromosome X
  • LD50.Z – Number anomalies of chromosome X, unspecified

Foundation entity

Turner syndrome – http://id.who.int/icd/entity/1987089698

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