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 |
429209 |
1. Apply sex-specific ruleNone |
429209 |
2. Check conditionsNone |
429209 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
339 |
4. Check minimum number of eventsNone |
339 |
5. Include endpointsNone |
339 |
6. Filter based on genotype QC (FinnGen only) |
319 |
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.
Broader endpoints:
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Narrower endpoints:
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 | 319 | 181 | 138 |
| Unadjusted period prevalence (%) | 0.08 | 0.08 | 0.08 |
| Median age at first event (years) | 36.83 | 36.56 | 37.18 |
-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
Mortality – FinRegistry
↥Relationships between endpoints
↥Index endpoint: Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED – Phakomatoses, not elsewhere classified
GWS hits: 1
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