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Turner's syndrome

Q17_TURNE_SYNDR

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 Q96
  • Cause of death: ICD-10 Q96

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

38

4. Check minimum number of events

None

38

5. Include endpoints

None

38

6. Filter based on genotype QC (FinnGen only)

34

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 Turner

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 1030 965 61
Only index persons 909 853 56
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.00
Only index persons 0.03 0.03 0.00
Median age at first event (years)
Whole population 15.85 16.16 9.17
Only index persons 17.47 18.00 9.51

-FinnGen-

Key figures

All Female Male
Number of individuals 34 29 5
Unadjusted period prevalence (%) 0.01 0.01 0.00
Median age at first event (years) 26.38 30.37 3.21

-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

Not a core endpoint, no data to show.

Mortality – FinRegistry

Association

Association between endpoint Q17_TURNE_SYNDR and mortality.

Females

Parameter HR [95% CI] p-value
Q17_TURNE_SYNDR 4.191 [3.01, 5.84] < 0.001
Birth year 0.994 [0.99, 1.0] 0.156

During the follow-up period (1.1.1998 — 31.12.2019), 51 out of 862 females with Q17_TURNE_SYNDR died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_TURNE_SYNDR.

N-year risk Females Males
1 0.364% No data
5 2.293% No data
10 5.834% No data
15 10.872% No data
20 18.565% No data

Relationships between endpoints

Index endpoint: Q17_TURNE_SYNDR – Turner's syndrome

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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