connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.
Other localized connective tissue disorders
DOID EFO Endpoint Browser PheWeb
L12_LOCALDCONNECTISSUEOTH
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. |
612 |
4. Check minimum number of eventsNone |
612 |
5. Include endpoints |
632 |
6. Filter based on genotype QC (FinnGen only) |
601 |
Control definitions (FinnGen only)
Control exclude
L12_OTHERSKINSUBCUTIS
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
L80-L99
Name in latin
Aliae morbositates localisatae textus connectivi
Similar endpoints
↥List of similar endpoints to
Other localized connective tissue disorders
based on the number of shared cases.
Similar with more cases:
- Other disorders of skin and subcutaneous tissue
- Diseases of the skin and subcutaneous tissue
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 4269 | 3191 | 1056 |
| Only index persons | 3949 | 2982 | 967 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.08 | 0.09 | 0.03 |
| Only index persons | 0.09 | 0.11 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 53.91 | 55.68 | 48.45 |
| Only index persons | 53.10 | 55.18 | 46.69 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 601 | 481 | 120 |
| Unadjusted period prevalence (%) | 0.16 | 0.19 | 0.06 |
| Median age at first event (years) | 55.39 | 55.77 | 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
-FinnGen-
Cumulative Incidence Function
No data
Mortality – FinRegistry
↥Association
Association between endpoint L12_LOCALDCONNECTISSUEOTH and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_LOCALDCONNECTISSUEOTH | 1.609 [1.39, 1.87] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 414 out of 2658 females with L12_LOCALDCONNECTISSUEOTH died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_LOCALDCONNECTISSUEOTH | 1.885 [1.5, 2.36] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 166 out of 878 males with L12_LOCALDCONNECTISSUEOTH died.
Mortality risk
Mortality risk for people of age
years, who have L12_LOCALDCONNECTISSUEOTH.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.132% | 0.253% |
| 5 | 0.812% | 1.947% |
| 10 | 1.838% | 5.043% |
| 15 | 3.557% | 9.345% |
| 20 | 6.019% | 15.559% |
Relationships between endpoints
↥Index endpoint: L12_LOCALDCONNECTISSUEOTH – Other localized connective tissue disorders
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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