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Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly

Endpoint Browser PheWeb

Q17_VACTREL

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

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

Registry filters:

  • Hospital discharge: ICD-10 — Q8726|Q76|Q675|Q42|Q43[5-9]|Q20|Q21|Q22|Q23|Q24|Q25|Q26[1-4]|Q39|Q6[0-4]|Q69[0-1]|Q70[014]|Q71
  • Hospital discharge: excluded ICD-10 — Q20.6, Q21.4, Q25.0, Q25.42, Q39.4, Q39.50, Q39.58, Q39.6
  • Cause of death: ICD-10 — Q8726|Q76|Q675|Q42|Q43[5-9]|Q20|Q21|Q22|Q23|Q24|Q25|Q26[1-4]|Q39|Q6[0-4]|Q69[0-1]|Q70[014]|Q71

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

5802

4. Check minimum number of events

None

5802

5. Include endpoints

None

5802

6. Filter based on genotype QC (FinnGen only)

5536

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy C
First used in FinnGen datafreeze DF6v3

Similar endpoints

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List of similar endpoints to Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly 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:

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 82336 40259 41864
Only index persons 60093 29667 30426
Unadjusted period prevalence (%)
Whole population 1.16 1.15 1.17
Only index persons 1.13 1.09 1.16
Median age at first event (years)
Whole population 4.73 4.92 4.32
Only index persons 13.65 14.23 13.08

-FinnGen-

Key figures

All Female Male
Number of individuals 5536 2898 2638
Unadjusted period prevalence (%) 1.35 1.26 1.45
Median age at first event (years) 43.79 39.86 48.11

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: Q17_VACTREL – Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly

GWS hits: 3

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