Osteochondrodysplasia with defects of growth of tubular bones and spine

Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE

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 Q77
  • Cause of death: ICD-10 Q77

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

68

4. Check minimum number of events

None

68

5. Include endpoints

None

68

6. Filter based on genotype QC (FinnGen only)

66

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 Osteochondrodysplasia cum dysplasia ossium tubularium (longorum) et columnae vertebralis

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 792 463 328
Only index persons 647 381 266
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 13.08 14.89 10.36
Only index persons 18.07 21.85 12.66

-FinnGen-

Key figures

All Female Male
Number of individuals 66 44 22
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 27.86 32.01 19.55

-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_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE.

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_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE – Osteochondrodysplasia with defects of growth of tubular bones and spine

GWS hits: 4

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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