LD50.31

ICD-11 MMS 2026-01

Klinefelter syndrome, male with more than two X chromosomes

Description

A disease affecting males, caused by the presence of more than two X chromosomes in each cell. This disease is characterised by impaired sexual development, intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. This disease may be differentiated from classic Klinefelter syndrome by increased severity of symptoms. Confirmation is through observation of more than two X chromosomes by karyotyping.

Index terms

  • Klinefelter syndrome, male with more than two X chromosomes
  • male Klinefelter karyotype with more than two x chromosomes
  • male Klinefelter with more than two x chromosomes
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  • xxxxy syndrome

Exclusions from above levels

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

Sibling codes

  • LD50.30 – Klinefelter syndrome with karyotype 47,XXY, regular
  • LD50.3Y – Other specified Klinefelter syndrome
  • LD50.3Z – Klinefelter syndrome, unspecified

Foundation entity

Klinefelter syndrome, male with more than two X chromosomes – http://id.who.int/icd/entity/848253123

Part of: LD50.3: Klinefelter syndrome › LD50: Number anomalies of chromosome X › 20: Developmental anomalies