Down's syndrome

Q17_DOWNS_SYNDR

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 Q90
  • Cause of death: ICD-10 Q90

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

116

4. Check minimum number of events

None

116

5. Include endpoints

None

116

6. Filter based on genotype QC (FinnGen only)

109

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q9
Name in latin Syndroma Down

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 4904 2480 2418
Only index persons 3840 1967 1873
Unadjusted period prevalence (%)
Whole population 0.07 0.07 0.07
Only index persons 0.07 0.07 0.07
Median age at first event (years)
Whole population 24.93 28.56 21.16
Only index persons 28.20 30.99 25.27

-FinnGen-

Key figures

All Female Male
Number of individuals 109 65 44
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 28.87 33.38 22.21

-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_DOWNS_SYNDR – Down's syndrome

GWS hits: -

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