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Digeorge syndrome

D3_DIGEORGE

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 D82.1
  • Hospital discharge: ICD-9 2791A
  • Cause of death: ICD-10 D82.1
  • Cause of death: ICD-9 2791A

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

18

4. Check minimum number of events

None

18

5. Include endpoints

None

18

6. Filter based on genotype QC (FinnGen only)

16

Control definitions (FinnGen only)

Control exclude D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D82
Name in latin Syndroma Di George

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 225 124 101
Only index persons 156 85 71
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population - 14.39 9.08
Only index persons 15.18 17.16 12.80

-FinnGen-

Key figures

All Female Male
Number of individuals 16 9 7
Unadjusted period prevalence (%) 0.00 0.00 0.00
Median age at first event (years) 7.13 10.65 2.61

-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

Not a core endpoint, no data to show.

Mortality – FinRegistry

Relationships between endpoints

Index endpoint: D3_DIGEORGE – Digeorge syndrome

GWS hits: -

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