Congenital malformation syndromes predominantly affecting facial appearance

PheWeb

Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1

No definition available.

Endpoint definition

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FinnGen phenotype data

321302 individuals

Apply sex-specific rule None

321302

Check conditions None

321302

Filter registries

Hospital Discharge: ICD-10 Q87.0

Cause of death: ICD-10 Q87.0

Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10 ; C.O.D: 10

Check minimum number of events None

Include endpoints None

Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1

Extra metadata

First used in FinnGen datafreeze DF7

Similar endpoints

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List of similar endpoints to Congenital malformation syndromes predominantly affecting facial appearance based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

None

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Summary Statistics

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Key figures

	All	Female	Male
Number of individuals	66	39	27
Unadjusted prevalence (%)	0.02	0.02	0.02
Mean age at first event (years)	15.31	17.42	12.27

Mortality

Follow-up	Absolute risk	HR [95% CI]	p	N
1998–2019	-	-	-	-
15 years	-	-	-	-
5 years	-	-	-	-
1 year	-	-	-	-

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1 – Congenital malformation syndromes predominantly affecting facial appearance
GWS hits:

Survival analyses between endpoints

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Plot

before Congenital malformation syndromes predominantly affecting facial appearance
after Congenital malformation syndromes predominantly affecting facial appearance

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Table

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Drugs most likely to be purchased after Congenital malformation syndromes predominantly affecting facial appearance

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