cleft lip: ['Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.']
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
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. |
117 |
4. Check minimum number of eventsNone |
117 |
5. Include endpointsNone |
117 |
6. Filter based on genotype QC (FinnGen only) |
117 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CLEFT_LIP_CLEFT_PALATE
Extra metadata
- First used in FinnGen datafreeze
- DF7
Similar endpoints
↥List of similar endpoints to
Cleft lip
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:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1666 | 668 | 995 |
| Only index persons | 1426 | 564 | 862 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.03 |
| Only index persons | 0.03 | 0.02 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 0.64 | 0.72 | 0.53 |
| Only index persons | 1.13 | 1.87 | 0.64 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 117 | 62 | 55 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 4.99 | 7.66 | 1.98 |
-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
- 109
- Matched controls
- 1088
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q36.9
ICD-10 Finland
Cleft lip, unilateral
+∞
46.2
41
*
4361
FHL
Lip plastic or reconstruction due to cleft lip
+∞
36.5
33
*
Q37.1
ICD-10 Finland
Cleft hard palate with unilateral cleft lip
+∞
34.2
31
*
EAB30
NOMESCO Finland
Correction of cleft lip
+∞
33.0
30
*
74910
ICD-8 Finland
Cleft palate and cleft lip, Cheiloschisis unilateralis
+∞
31.8
29
*
74920
ICD-8 Finland
Cleft palate and cleft lip, Cheilognathopalatoschisis unilateralis
+∞
20.4
19
*
74912
ICD-8 Finland
Cleft palate and cleft lip, Cheilognathoschisis unilateralis
+∞
20.4
19
*
ZSZ10
NOMESCO Finland
Secondary repair operation
+∞
18.2
17
*
7492A
ICD-9 Finland
Cleft palate and cleft lip, Cleft palate with cleft lip[CHEILOPALATOSCHISIS UNILATERALIS COMPLETA]
+∞
14.9
14
*
7491B
ICD-9 Finland
Cleft palate and cleft lip, Cleft lip[CHEILOSCHISIS UNILATERALIS INCOMPLETA]
+∞
12.7
12
*
Q35.1
ICD-10 Finland
Cleft hard palate
+∞
11.7
11
*
4365
FHL
Correction of nasal deformity
+∞
11.7
11
*
Q37.0
ICD-10 Finland
Cleft hard palate with bilateral cleft lip
+∞
11.7
11
*
Q36.0
ICD-10 Finland
Cleft lip, bilateral
+∞
10.6
10
*
4366
FHL
Upper jaw scar repair surgery
+∞
10.6
10
*
DLW00
NOMESCO Finland
Correction of cleft nose
+∞
10.6
10
*
ECB17
NOMESCO Finland
Operation for cleft gingiva
+∞
10.6
10
*
7491A
ICD-9 Finland
Cleft palate and cleft lip, Cleft lip[CHEILOSCHISIS UNILATERALIS COMPLETA]
+∞
10.6
10
*
DLD20
NOMESCO Finland
Rhinoplasty
109.0
9.6
10
*
4367
FHL
Bone transfer to the upper jaw
+∞
9.5
9
*
74924
ICD-8 Finland
Cleft palate and cleft lip, Cheilognathopalatoschisis bilateralis
+∞
9.5
9
*
74900
ICD-8 Finland
Cleft palate and cleft lip, Cleft palate
+∞
9.5
9
*
SBB10
NOMESCO Finland
Teeth copy
5.2
8.9
29
71
EBB10
NOMESCO Finland
Insertion of dental implant
54.4
8.8
10
*
SJX10
NOMESCO Finland
Short check-up visit for orthodontisk therapy
7.2
8.7
21
35
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
8.4
8
*
4204
FHL
Molding of the cartilaginous part of the nose
+∞
8.4
8
*
ZSZ00
NOMESCO Finland
Primary repair operation
+∞
8.4
8
*
4364
FHL
Pharyngeal tongue plastic
+∞
8.4
8
*
SJD00
NOMESCO Finland
Removal or reattacment of arrow in fixed orthodontisk device
7.2
8.0
19
31
ZZH21
NOMESCO Finland
Graft of patients own bone, small pieces
20.1
7.8
11
6
SJD20
NOMESCO Finland
Attachment of modifiable arrow of fixed orthodontisk device
8.3
7.5
16
22
7491F
ICD-9 Finland
Cleft palate and cleft lip, Cleft lip[CHEILOGNATOSCHISIS UNILATERALIS INCOMPLETA]
+∞
7.4
7
*
7492C
ICD-9 Finland
Cleft palate and cleft lip, Cleft palate with cleft lip[CHEILOPALATOSCHISIS BILATERALIS COMPLETA]
+∞
7.4
7
*
74913
ICD-8 Finland
Cleft palate and cleft lip, Cheilognathoschisis bilateralis
+∞
7.4
7
*
Q37.99
ICD-10 Finland
Cleft palate with cleft lip NOS
+∞
7.4
7
*
SJC50
NOMESCO Finland
Removal of orthodontisk device with at least 7 brackets
6.7
6.9
17
29
SAA04
NOMESCO Finland
Special inverstigation of mouth
5.3
6.9
21
47
38401
ICD-8 Finland
Other inflammatory diseases of ear, Rhinosalpingitis (otosalpingitis) chronica adhaesiva
73.9
6.5
7
*
SPC20
NOMESCO Finland
Attachment of crone of tooth to implant
73.9
6.5
7
*
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
73.9
6.5
7
*
4368
FHL
Closing the fistula of the mouth
+∞
6.3
6
*
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
21
119
1.93
1.81
6.3
2.9
252.85
1270.55
ng/l
0.48
13
67
7
24
3.03
1.75
2.3
1.3
—
—
—
0
0
19
120
1.70
1.17
1.6
2.3
—
—
—
0
0
20
129
1.66
1.15
2.6
2.6
1.85
0.64
e6/l
0.61
11
76
26
181
1.56
1.11
2.3
2.5
—
—
—
0
0
19
123
1.65
1.08
2.5
2.8
1.60
3.33
e6/l
—
10
70
7
34
2.12
1.05
24.9
10.2
1.39
1.62
%
—
7
34
7
34
2.12
1.05
24.6
10.2
0.93
0.75
%
—
7
34
0
30
0.00
0.99
0.0
4.3
—
47.06
—
0
30
6
27
2.29
0.95
29.0
11.0
25.33
23.91
mmol/l
—
6
27
35
269
1.43
0.93
3.2
2.9
—
—
—
0
0
8
42
1.97
0.91
1.5
1.3
—
—
—
0
0
47
559
0.73
0.85
5.9
11.2
4.22
3.86
e9/l
0.23
38
495
8
46
1.79
0.84
2.6
1.8
—
—
—
0
0
12
75
1.67
0.78
1.0
1.0
—
—
—
0
0
12
77
1.62
0.72
1.4
1.4
46.18
24.70
iu/l
1.22
12
58
26
200
1.39
0.68
1.7
1.7
1.60
1.32
mmol/l
0.56
26
179
0
22
0.00
0.60
0.0
1.0
—
—
—
0
0
0
23
0.00
0.59
0.0
1.3
—
49.55
—
0
23
22
169
1.37
0.59
1.3
1.5
—
—
—
0
0
5
87
0.56
0.59
1.4
1.4
—
—
—
0
0
35
292
1.28
0.54
1.2
1.4
0.68
1.22
u/ml
—
9
72
9
65
1.42
0.52
22.1
13.4
26.78
25.10
mmol/l
—
9
65
24
191
1.32
0.52
1.9
2.5
0.55
0.73
mg/l
0.47
17
141
25
205
1.28
0.44
3.2
2.7
0.22
0.26
e6/l
0.08
19
149
5
32
1.59
0.43
3.0
6.7
2.98
3.30
g/l
—
5
32
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
14
106
1.36
0.41
2.2
2.4
12.89
14.90
umol/l
0.64
14
97
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.3
—
—
—
0
0
0
17
0.00
0.41
0.0
3.8
—
—
—
0
0
12
89
1.39
0.39
4.6
2.2
32.92
28.95
u/l
0.44
12
76
0
19
0.00
0.39
0.0
1.6
—
—
—
0
0
108
1103
0.73
0.39
13.7
15.9
138.03
139.15
g/l
0.39
108
1088
10
134
0.72
0.37
1.7
1.7
—
—
—
0
0
30
258
1.22
0.36
2.6
2.3
—
—
—
0
0
13
100
1.34
0.35
8.6
10.9
1.22
1.16
mmol/l
0.43
13
94
13
103
1.29
0.29
1.5
2.2
—
—
—
0
0
11
138
0.78
0.27
1.7
1.4
23.12
21.53
nmol/l
0.13
11
122
5
38
1.33
0.23
2.0
1.2
—
—
—
0
0
28
250
1.16
0.22
1.9
1.7
98.90
96.76
pmol/l
0.08
12
136
5
42
1.20
0.22
4.6
5.5
89.00
99.90
%
—
5
42
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
2.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
48
1.26
0.20
2.0
1.5
—
—
—
0
0
12
99
1.24
0.20
1.4
1.9
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.7
—
—
—
0
0
6
52
1.16
0.19
2.0
2.8
—
—
—
0
0
20
226
0.86
0.19
1.5
2.8
8.80
17.92
ng/l
—
10
89
95
973
0.87
0.17
13.0
12.3
40.77
41.31
%
0.40
86
848
8
70
1.15
0.16
1.4
1.3
—
—
—
0
0
8
70
1.15
0.16
1.5
4.8
220.25
244.94
u/l
—
8
70
8
71
1.14
0.16
1.5
1.8
—
—
—
0
0
8
71
1.14
0.16
1.6
1.9
—
—
—
0
0
43
404
1.10
0.15
4.3
4.3
0.00
0.00
estimate
—
5
77
25
228
1.12
0.15
2.3
2.2
—
—
—
0
0
85
873
0.90
0.14
4.3
3.8
—
—
—
0
0
18
200
0.88
0.13
3.1
3.3
0.00
0.01
estimate
—
5
76
10
85
1.19
0.13
7.8
9.7
6.22
5.72
kpa
—
10
85
43
410
1.08
0.10
3.0
2.9
0.00
0.00
estimate
—
5
75
31
295
1.07
0.07
2.1
1.7
—
—
—
0
0
84
825
1.06
0.07
7.8
8.0
93.33
96.54
ml/min/173m2
0.63
67
641
10
89
1.14
0.07
2.4
2.4
19.61
24.73
%
—
10
78
101
1022
0.91
0.06
8.1
8.6
27.44
29.01
u/l
0.31
101
1001
29
303
0.94
0.06
7.4
6.5
37.23
37.39
g/l
0.06
29
291
33
321
1.04
0.02
2.5
2.8
—
—
—
0
0
14
147
0.95
0.01
4.1
3.0
1.19
1.52
ug/l
0.45
14
133
37
363
1.03
0.01
3.7
4.3
—
—
—
0
0
95
956
0.97
0.00
9.1
10.8
21.72
20.51
mg/l
0.13
67
689
65
653
0.99
0.00
3.1
4.0
7.30
8.05
mm/h
0.28
60
612
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
95.80
—
0
5
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
5.5
—
27.13
—
0
8
0
9
0.00
0.00
0.0
3.3
—
41.32
—
0
9
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
113.57
—
0
7
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.7
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
5.78
—
0
8
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
3.0
—
17.68
—
0
8
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
0
6
0.00
0.00
0.0
1.0
—
133.33
—
0
6
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
6.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
9
90
1.00
0.00
2.6
2.6
421.33
356.93
nmol/l
—
9
84
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
111.50
—
0
6
0
7
0.00
0.00
0.0
6.1
—
—
—
0
0
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
7
70
1.00
0.00
2.4
5.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CLEFT_LIP and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_CLEFT_LIP.| 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_CLEFT_LIP – Cleft lip
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
Loading data