LD50.1

ICD-11 MMS 2026-01

Karyotype 47,XXX

Description

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). Most individuals are only mildly affected or asymptomatic, the most common physical features including tall stature, epicanthal folds, hypotonia and clinodactyly, with seizures, renal and genitourinary abnormalities, and premature ovarian failure being also associated findings.

Index terms

  • Karyotype 47,XXX
  • female triple x syndrome
  • triple X female
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  • triple x
  • triple x syndrome
  • trisomy x syndrome
  • xxx syndrome

Exclusions from above levels

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

Sibling codes

  • LD50.0 – Turner syndrome
  • 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

Karyotype 47,XXX – http://id.who.int/icd/entity/423644907

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