No definition available.
Other congenital malformations of skull and face bones
Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
126 |
4. Check minimum number of eventsNone |
126 |
5. Include endpointsNone |
126 |
6. Filter based on genotype QC (FinnGen only) |
126 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q6[5-9]|Q7
- Name in latin
- Aliae malformationes congenitae ossium cranii et faciei
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of skull and face bones
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- 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 | 3696 | 1272 | 2423 |
| Only index persons | 2224 | 749 | 1475 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.06 | 0.04 | 0.07 |
| Only index persons | 0.05 | 0.03 | 0.06 |
| Median age at first event (years) | |||
| Whole population | 0.83 | 0.91 | 0.77 |
| Only index persons | 1.25 | 1.40 | 1.18 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 126 | 67 | 59 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 3.27 | 4.27 | 2.13 |
-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
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 112
- Matched controls
- 1119
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q75.3
ICD-10 Finland
Macrocephaly
+∞
40.0
36
*
Q75.00
ICD-10 Finland
Coronary craniosynostosis
+∞
28.3
26
*
AA6AD
NOMESCO Finland
Cranial bones CT examination
+∞
28.3
26
*
AAK30
NOMESCO Finland
Craniofacial reconstruction in congenital malformations
+∞
18.2
17
*
Q75.9
ICD-10 Finland
Congenital malformation of skull and face bones, unspecified
+∞
17.1
16
*
Q75.01
ICD-10 Finland
Sagittal craniosynostoos
+∞
17.1
16
*
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
39.6
14.0
17
5
QA9S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in head or neck, unspecified
145.6
12.7
13
*
ZXD10
NOMESCO Finland
Scheduled procedure
4.5
12.6
72
321
ZXE20
NOMESCO Finland
More than three and less than five hours
5.5
11.6
38
95
Q75.0
ICD-10 Finland
Craniosynostosis
+∞
9.5
9
*
Q75.88
ICD-10 Finland
Other specified congenital malformations of skull and face bones
+∞
9.5
9
*
Q75.1
ICD-10 Finland
Craniofacial dysostosis
+∞
9.5
9
*
EEC05
NOMESCO Finland
Le Fort I osteotomy
+∞
8.4
8
*
Q67.3
ICD-10 Finland
Plagiocephaly
+∞
8.4
8
*
ZXE00
NOMESCO Finland
One hour or less
3.1
7.7
64
338
R62.0
ICD-10 Finland
Delayed milestone
5.4
7.4
22
48
AAK20
NOMESCO Finland
Operations for craniosynostosis
+∞
7.4
7
*
R4130
NOMESCO Finland
Speech therapy
6.7
7.3
18
31
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.6
6.9
24
62
ZXE40
NOMESCO Finland
More than seven and less than nine hours
8.7
6.9
14
18
F83
ICD-10 Finland
Mixed specific developmental disorders
7.0
6.8
16
26
Z01.8
ICD-10 Finland
Other specified special examinations
3.4
6.5
34
126
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.9
6.4
49
234
Q75.08
ICD-10 Finland
Other craniosynostosis
+∞
6.3
6
*
Z31.5
ICD-10 Finland
Genetic counselling
4.3
6.2
23
64
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES – Other congenital malformations of skull and face bones
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
Loading data