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Chromosomal abnormalities, not elsewhere classified

DOID EFO MESH SNOMED PheWeb

Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_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

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FinnGen phenotype data

392423 individuals

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Apply sex-specific rule None

392423

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Check conditions None

392423

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Check pre-conditions, main-only, mode, registry filters

Hospital Discharge: ICD-10 Q90-Q99
Cause of death: ICD-10 Q90-Q99

2 out of 7 registries used, show all original rules.

503

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Check minimum number of events None

503

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Include endpoints

503

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Remove individuals based on genotype QC

469

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Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Control definitions

Controls for this endpoint are individuals that are not cases.

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

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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:

Venn diagram with a set fully inside an highlighted set Narrower endpoints:

Show all endpoint correlations

Summary Statistics

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Key figures

All Female Male
Number of individuals 469 280 189
Unadjusted prevalence (%) 0.12 0.13 0.11
Mean age at first event (years) 26.78 29.40 22.91

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 0.15 10.51 [2.64, 41.88] 8.6e-4 24
15 years 0.04 7.12 [1.83, 27.74] 4.7e-3 11
5 years - - - -
1 year - - - -

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED – Chromosomal abnormalities, not elsewhere classified
GWS hits: 1

Survival analyses between endpoints

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Plot

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

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Endpoint not on priority list, no data to show.