No definition available.
Other congenital malformations of face and neck
EFO MESH Endpoint Browser PheWeb
Q17_OTHER_CONGEN_MALFO_FACE_NECK
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. |
1028 |
4. Check minimum number of eventsNone |
1028 |
5. Include endpointsNone |
1028 |
6. Filter based on genotype QC (FinnGen only) |
986 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q1
Name in latin
Aliae malformationes congenitae faciei et colli
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of face and neck
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of eye, ear, face and neck
- 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 | 11896 | 6011 | 5855 |
| Only index persons | 10422 | 5315 | 5107 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.17 | 0.17 | 0.16 |
| Only index persons | 0.20 | 0.20 | 0.19 |
| Median age at first event (years) | |||
| Whole population | 23.91 | 23.25 | 24.56 |
| Only index persons | 27.09 | 26.22 | 28.00 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 986 | 588 | 398 |
| Unadjusted period prevalence (%) | 0.22 | 0.23 | 0.20 |
| Median age at first event (years) | 38.24 | 34.66 | 43.52 |
-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_FACE_NECK and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_FACE_NECK | 1.199 [1.01, 1.42] | 0.036 |
| Birth year | 0.993 [0.98, 1.0] | 0.118 |
During the follow-up period (1.1.1998 — 31.12.2019), 216 out of 5337 females with Q17_OTHER_CONGEN_MALFO_FACE_NECK died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_FACE_NECK | 1.171 [1.02, 1.35] | 0.028 |
| Birth year | 0.989 [0.98, 1.0] | 0.032 |
During the follow-up period (1.1.1998 — 31.12.2019), 325 out of 5174 males with Q17_OTHER_CONGEN_MALFO_FACE_NECK died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_FACE_NECK.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.091% | 0.233% |
| 5 | 0.666% | 1.419% |
| 10 | 1.657% | 3.693% |
| 15 | 3.203% | 6.908% |
| 20 | 5.583% | 11.882% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_FACE_NECK – Other congenital malformations of face and neck
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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