relapsing polychondritis: Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.
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. |
67 |
4. Check minimum number of eventsNone |
67 |
5. Include endpointsNone |
67 |
6. Filter based on genotype QC (FinnGen only) |
63 |
Control definitions (FinnGen only)
Control exclude
M13_OTHERBONE
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
M94
Name in latin
Polychondritis recidiva
Similar endpoints
↥List of similar endpoints to
Relapsing polychondritis
based on the number of shared cases.
Similar with more cases:
- Chondropathies
- Other disorders of bone
- Osteopathies and chondropathies
- Autoimmune diseases
- Used for control exclusion in common control thyroid runs
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 349 | 227 | 121 |
| Only index persons | 333 | 217 | 116 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.00 |
| Only index persons | 0.01 | 0.01 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 52.03 | 50.64 | 54.42 |
| Only index persons | 51.38 | 50.03 | 53.90 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 63 | 46 | 17 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | 51.20 | 50.21 | 53.87 |
-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
No data
-FinnGen-
Cumulative Incidence Function
No data
Mortality – FinRegistry
↥Association
Association between endpoint M13_RELAPSPOLYCHONDR and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have M13_RELAPSPOLYCHONDR.| 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: M13_RELAPSPOLYCHONDR – Relapsing polychondritis
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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