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

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 Q77
  • Cause of death: ICD-10 Q77

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

65

4. Check minimum number of events

None

65

5. Include endpoints

None

65

6. Filter based on genotype QC (FinnGen only)

63

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 63 41 22
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 28.83 33.81 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

Mortality – FinRegistry

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

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