Endpoint definition
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FinnGen phenotype data
392423 individuals
Apply sex-specific rule None
392423
Check conditions None
392423
Check pre-conditions, main-only, mode, registry filters
2 out of 7 registries used, show all original rules.
100
Check minimum number of events None
100
Include endpoints None
100
Remove individuals based on genotype QC
94
Q17_DOWNS_SYNDR
Control definitions
Control exclude
Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q9
Name in latin
Syndroma Down
Show upset plot detailing case counts by codes
Or the full data table
Down's syndrome
based on the number of shared cases.
Broader endpoints:
Narrower endpoints: