LD50.31ICD-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
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