Other congenital musculoskeletal deformities

Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI

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 Q68
  • Cause of death: ICD-10 Q68

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

112

4. Check minimum number of events

None

112

5. Include endpoints

None

112

6. Filter based on genotype QC (FinnGen only)

105

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q6[5-9]|Q7
Name in latin Aliae deformitates musculosceletales congenitae

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 2341 1201 1140
Only index persons 1848 977 871
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.03
Only index persons 0.03 0.04 0.03
Median age at first event (years)
Whole population - 5.95 2.58
Only index persons 8.22 9.78 6.48

-FinnGen-

Key figures

All Female Male
Number of individuals 105 76 29
Unadjusted period prevalence (%) 0.03 0.03 0.01
Median age at first event (years) 15.35 16.20 13.12

-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

No data

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI – Other congenital musculoskeletal deformities

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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