Atrioventricular septal defect

Q17_AVSD

Endpoint definition

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 Q21.2
  • Hospital discharge: ICD-9 7456[B-C]|7458X
  • Hospital discharge: excluded ICD-10 Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Hospital discharge: excluded ICD-9 758|7595|75683
  • Cause of death: ICD-10 Q21.2
  • Cause of death: ICD-9 7456[B-C]|7458X
  • Cause of death: excluded ICD-10 Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Cause of death: excluded ICD-9 758|7595|75683

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

120

4. Check minimum number of events

None

120

5. Include endpoints

None

120

6. Filter based on genotype QC (FinnGen only)

114

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF7

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2000 1168 826
Only index persons 1460 841 619
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.02
Only index persons 0.03 0.03 0.02
Median age at first event (years)
Whole population 4.19 4.72 3.16
Only index persons 8.98 10.27 7.24

-FinnGen-

Key figures

All Female Male
Number of individuals 114 72 42
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 27.20 22.85 34.67

-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

Relationships between endpoints

Index endpoint: Q17_AVSD – Atrioventricular septal defect

GWS hits: -

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