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Congenital malformations of heart and great arteries

DOID EFO Endpoint Browser PheWeb

CONGEN_HEART_ARTER

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 — Q20, Q21, Q22, Q23, Q24, Q25
  • Hospital discharge: ICD-9 — 745|746|747[0-3]
  • Hospital discharge: ICD-8 — 746|747[0-3]
  • Cause of death: ICD-10 — Q20, Q21, Q22, Q23, Q24, Q25
  • Cause of death: ICD-9 — 745|746|747[0-3]
  • Cause of death: ICD-8 — 746|747[0-3]

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

4463

4. Check minimum number of events

None

4463

5. Include endpoints

None

4463

6. Filter based on genotype QC (FinnGen only)

4270

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze DF2

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 68879 34201 34478
Only index persons 46707 23175 23532
Unadjusted period prevalence (%)
Whole population 0.97 0.98 0.96
Only index persons 0.88 0.85 0.90
Median age at first event (years)
Whole population 1.62 1.26 1.74
Only index persons 6.90 6.40 7.40

-FinnGen-

Key figures

All Female Male
Number of individuals 4270 2203 2067
Unadjusted period prevalence (%) 1.04 0.96 1.14
Median age at first event (years) 31.65 25.70 38.00

-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: CONGEN_HEART_ARTER – Congenital malformations of heart and great arteries

GWS hits: 5

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