This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Epidermolysis bullosa
Q17_EPIDERMOL_BULLOSA
epidermolysis bullosa: a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.
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. |
43 |
4. Check minimum number of eventsNone |
43 |
5. Include endpointsNone |
43 |
6. Filter based on genotype QC (FinnGen only) |
43 |
Control definitions (FinnGen only)
Control exclude
Q17_OTHER_CONGEN_MALFO
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q8
Name in latin
Epidermolysis bullosa
Similar endpoints
↥List of similar endpoints to
Epidermolysis bullosa
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- 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 | 489 | 266 | 222 |
| Only index persons | 416 | 226 | 190 |
| 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 | 22.22 | 27.80 | 15.49 |
| Only index persons | 22.99 | 28.57 | 16.35 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 43 | 27 | 16 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 31.29 | 36.91 | 21.80 |
-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
Not a core endpoint, no data to show.
Mortality – FinRegistry
↥Association
Association between endpoint Q17_EPIDERMOL_BULLOSA and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_EPIDERMOL_BULLOSA.| 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_EPIDERMOL_BULLOSA – Epidermolysis bullosa
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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