No definition available.
Phakomatoses, not elsewhere classified
EFO MESH Endpoint Browser PheWeb
Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED
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. |
373 |
4. Check minimum number of eventsNone |
373 |
5. Include endpointsNone |
373 |
6. Filter based on genotype QC (FinnGen only) |
350 |
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
Phacomatoses non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Phakomatoses, not elsewhere classified
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3534 | 1781 | 1742 |
| Only index persons | 2959 | 1519 | 1440 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.05 | 0.05 |
| Only index persons | 0.06 | 0.06 | 0.05 |
| Median age at first event (years) | |||
| Whole population | 24.21 | 27.82 | 20.38 |
| Only index persons | 27.09 | 30.36 | 23.64 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 350 | 200 | 150 |
| Unadjusted period prevalence (%) | 0.08 | 0.08 | 0.08 |
| Median age at first event (years) | 36.77 | 36.53 | 37.09 |
-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_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED | 2.597 [2.1, 3.21] | < 0.001 |
| Birth year | 0.996 [0.99, 1.01] | 0.496 |
During the follow-up period (1.1.1998 — 31.12.2019), 166 out of 1530 females with Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED | 2.467 [1.98, 3.07] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 195 out of 1477 males with Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED died.
Mortality risk
Mortality risk for people of age
years, who have Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.235% | 0.449% |
| 5 | 1.518% | 2.752% |
| 10 | 3.83% | 7.147% |
| 15 | 7.45% | 12.817% |
| 20 | 13.17% | 20.695% |
Relationships between endpoints
↥Index endpoint: Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED – Phakomatoses, not elsewhere classified
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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