No definition available.
Other congenital malformations of tongue, mouth and pharynx
EFO MESH Endpoint Browser PheWeb
Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX
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. |
480 |
4. Check minimum number of eventsNone |
480 |
5. Include endpointsNone |
480 |
6. Filter based on genotype QC (FinnGen only) |
455 |
Control definitions (FinnGen only)
Control exclude
Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q3[8-9]|Q4[0-5]
Name in latin
Aliae malformationes congenitae linguae, oris et pharyngis
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of tongue, mouth and pharynx
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations of the digestive system
- Congenital malformations, deformations and chromosomal abnormalities
- 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 | 23446 | 7345 | 16093 |
| Only index persons | 13649 | 4330 | 9319 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.37 | 0.21 | 0.45 |
| Only index persons | 0.29 | 0.16 | 0.36 |
| Median age at first event (years) | |||
| Whole population | 4.11 | 4.22 | 4.05 |
| Only index persons | 5.22 | 5.35 | 5.16 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 455 | 240 | 215 |
| Unadjusted period prevalence (%) | 0.10 | 0.09 | 0.11 |
| Median age at first event (years) | 6.36 | 7.26 | 5.35 |
-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
↥Association
Association between endpoint Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX | 1.047 [0.75, 1.46] | 0.786 |
| Birth year | 0.989 [0.98, 1.0] | 0.023 |
During the follow-up period (1.1.1998 — 31.12.2019), 75 out of 14267 males with Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 0.197% |
| 5 | No data | 1.328% |
| 10 | No data | 3.426% |
| 15 | No data | 6.658% |
| 20 | No data | 11.252% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX – Other congenital malformations of tongue, mouth and pharynx
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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