ICD-11 code : LD50.31;
Preferred Label : Klinefelter syndrome, male with more than two X chromosomes;
ICD-11 definition : A disease affecting males, caused by the presence of more than two X chromosomes in
each cell. This disease is characterized 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.;
ICD-11 synonym : male Klinefelter with more than two x chromosomes; male Klinefelter karyotype with more than two x chromosomes;
ICD-11 inclusion : xxxxy syndrome;
Origin ID : 848253123;
UMLS CUI : C0432474;
Currated CISMeF NLP mapping
- ICD-10 Mapping
- Semantic type(s)
- UMLS correspondences (same concept)
A disease affecting males, caused by the presence of more than two X chromosomes in
each cell. This disease is characterized 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.
