Congenital malformations, deformations and chromosomal abnormalities

No definition available.

Endpoint definition

FinnGen phenotype data
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Filter registries Inpat., Oupat., Death

Hospital Discharge: ICD-10 Q00-Q99
Hospital discharge: ICD-9 7[4-5]
Hospital discharge: ICD-8 7[4-5]
Cause of death: ICD-10 Q00-Q99
Cause of death: ICD-9 7[4-5]
Cause of death: ICD-8 7[4-5]

Check pre-conditions None

Include endpoints None

Check conditions None

Apply sex-specific rule None

diagram downward connector Q17_CONGEN_MALFO_DEFORMAT_CHROMOSOMAL_ABNORMALITI

Extra metadata

Level in the ICD hierarchy 1
Special XVII_MALFORMAT_ABNORMAL
First used in FinnGen datafreeze DF4

Similar endpoints

List of similar endpoints to Congenital malformations, deformations and chromosomal abnormalities 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:

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Summary Statistics

Key figures

All Female Male
Number of individuals 15201 9192 6009
Unadjusted prevalence (%) 5.85 6.26 5.31
Mean age at first event (years) 29.59 30.32 28.46

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 0.03 1.82 [1.46, 2.28] 1.5e-7 744
15 years 0.01 2.21 [1.82, 2.69] 8.5e-16 526
5 years 0.00 3.44 [2.81, 4.21] 5.3e-33 185
1 year 0.00 5.44 [3.97, 7.45] 4.0e-26 53

Correlations

Index endpoint: Q17_CONGEN_MALFO_DEFORMAT_CHROMOSOMAL_ABNORMALITI – Congenital malformations, deformations and chromosomal abnormalities
GWS hits:

Survival analyses between endpoints

Plot

before Congenital malformations, deformations and chromosomal abnormalities
after Congenital malformations, deformations and chromosomal abnormalities

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Drugs most likely to be purchased after Congenital malformations, deformations and chromosomal abnormalities