No definition available.
Congenital malformations of eye, ear, face and neck
EFO MESH Endpoint Browser PheWeb
Q17_CONGEN_MALFO_EYE_EAR_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. |
2490 |
4. Check minimum number of eventsNone |
2490 |
5. Include endpoints |
2490 |
6. Filter based on genotype QC (FinnGen only) |
2371 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
2
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q
Name in latin
Malformationes congenitae oculorum, aurium, faciei et colli
Similar endpoints
↥List of similar endpoints to
Congenital malformations of eye, ear, face and neck
based on the number of shared cases.
Similar with more cases:
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 42386 | 21671 | 20654 |
| Only index persons | 33417 | 17407 | 16010 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.60 | 0.62 | 0.58 |
| Only index persons | 0.63 | 0.64 | 0.61 |
| Median age at first event (years) | |||
| Whole population | 6.75 | 7.53 | 5.86 |
| Only index persons | 11.62 | 13.48 | 9.60 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 2371 | 1491 | 880 |
| Unadjusted period prevalence (%) | 0.53 | 0.59 | 0.44 |
| Median age at first event (years) | 31.84 | 28.23 | 37.95 |
-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_CONGEN_MALFO_EYE_EAR_FACE_NECK and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK | 1.228 [1.05, 1.43] | 0.01 |
| Birth year | 0.989 [0.98, 1.0] | 0.01 |
During the follow-up period (1.1.1998 — 31.12.2019), 596 out of 19221 females with Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK | 1.217 [1.07, 1.39] | 0.003 |
| Birth year | 0.989 [0.98, 1.0] | 0.014 |
During the follow-up period (1.1.1998 — 31.12.2019), 742 out of 18380 males with Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.12% | 0.234% |
| 5 | 0.592% | 1.33% |
| 10 | 1.52% | 3.435% |
| 15 | 2.831% | 6.677% |
| 20 | 4.722% | 12.141% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK – Congenital malformations of eye, ear, face and neck
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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