osteochondrodysplasia: A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
292 |
4. Check minimum number of eventsNone |
292 |
5. Include endpointsNone |
292 |
6. Filter based on genotype QC (FinnGen only) |
279 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
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 osteochondrodysplasiae
Similar endpoints
↥List of similar endpoints to
Other osteochondrodysplasias
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2943 | 1494 | 1438 |
| Only index persons | 2617 | 1336 | 1281 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.04 | 0.04 |
| Only index persons | 0.05 | 0.05 | 0.05 |
| Median age at first event (years) | |||
| Whole population | 20.01 | 23.59 | 15.99 |
| Only index persons | 22.24 | 27.33 | 16.94 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 279 | 176 | 103 |
| Unadjusted period prevalence (%) | 0.06 | 0.07 | 0.05 |
| Median age at first event (years) | 35.26 | 36.45 | 33.23 |
-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_OSTEOCHONDROD and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_OSTEOCHONDROD | 1.735 [1.24, 2.42] | 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.011 |
During the follow-up period (1.1.1998 — 31.12.2019), 106 out of 1266 females with Q17_OTHER_OSTEOCHONDROD died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_OSTEOCHONDROD | 1.75 [1.36, 2.26] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 87 out of 1206 males with Q17_OTHER_OSTEOCHONDROD died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_OSTEOCHONDROD.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.14% | 0.289% |
| 5 | 0.742% | 1.79% |
| 10 | 2.147% | 4.824% |
| 15 | 3.782% | 9.297% |
| 20 | 6.659% | 15.819% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_OSTEOCHONDROD – Other osteochondrodysplasias
GWS hits: 1
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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