Chromosomal abnormalities, not elsewhere classified

Klinefelter's syndrome: A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.

Endpoint definition

Extra metadata

Level in the ICD hierarchy 2
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q
Name in latin Abnormitates chromosomales non alibi classificatae

Similar endpoints

List of similar endpoints to Chromosomal abnormalities, not elsewhere classified based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Broader endpoints:

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Summary Statistics

Key figures

All Female Male
Number of individuals 261 143 118
Unadjusted prevalence (%) 0.10 0.10 0.10
Mean age at first event (years) 27.13 29.12 24.72

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 0.22 17.22 [7.20, 41.22] 1.6e-10 16
15 years 0.14 22.65 [9.33, 55.01] 5.5e-12 14
5 years - - - -
1 year - - - -

Correlations

Index endpoint: Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED – Chromosomal abnormalities, not elsewhere classified
GWS hits: 0

Survival analyses between endpoints

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before Chromosomal abnormalities, not elsewhere classified
after Chromosomal abnormalities, not elsewhere classified

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Drugs most likely to be purchased after Chromosomal abnormalities, not elsewhere classified