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Congenital malformations of eye, ear, face and neck

MESH Endpoint Browser PheWeb

Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

No definition available.

Endpoint definition

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FinnGen phenotype data

429209 individuals

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Apply sex-specific rule None

429209

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Check conditions None

429209

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

Hospital Discharge: ICD-10 Q10-Q18
Cause of death: ICD-10 Q10-Q18

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

2229

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Check minimum number of events None

2229

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Include endpoints

2229

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Remove individuals based on genotype QC

2121

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Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

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 Malformationes congenitae oculorum, aurium, faciei et colli

Similar endpoints

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List of similar endpoints to Congenital malformations of eye, ear, face and neck 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 2121 1332 789
Unadjusted prevalence (%) 0.51 0.58 0.43
Mean age at first event (years) 32.90 30.87 36.33

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 0.06 2.91 [1.39, 6.09] 4.7e-3 86
15 years 0.01 1.89 [1.10, 3.26] 2.2e-2 34
5 years 0.01 3.78 [2.16, 6.63] 3.5e-6 18
1 year - - - -

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK – Congenital malformations of eye, ear, face and neck
GWS hits:

Survival analyses between endpoints

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Plot

before Congenital malformations of eye, ear, face and neck
after Congenital malformations of eye, ear, face and neck

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Drugs most likely to be purchased after Congenital malformations of eye, ear, face and neck

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Endpoint not on priority list, no data to show.