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 |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
123 |
4. Check minimum number of eventsNone |
123 |
5. Include endpointsNone |
123 |
6. Filter based on genotype QC (FinnGen only) |
113 |
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
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
- 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 | 113 | 59 | 54 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 4.89 | 7.04 | 2.54 |
-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
↥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
- 119
- Matched controls
- 1190
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q36.9
ICD-10 Finland
Cleft lip, unilateral
+∞
53.2
47
*
4361
FHL
Lip plastic or reconstruction due to cleft lip
+∞
41.0
37
*
Q37.1
ICD-10 Finland
Cleft hard palate with unilateral cleft lip
+∞
37.5
34
*
EAB30
NOMESCO Finland
Correction of cleft lip
+∞
35.2
32
*
74910
ICD-8 Finland
Cleft palate and cleft lip, Cheiloschisis unilateralis
+∞
31.7
29
*
74912
ICD-8 Finland
Cleft palate and cleft lip, Cheilognathoschisis unilateralis
+∞
22.6
21
*
74920
ICD-8 Finland
Cleft palate and cleft lip, Cheilognathopalatoschisis unilateralis
+∞
20.4
19
*
7492A
ICD-9 Finland
Cleft palate and cleft lip, Cleft palate with cleft lip[CHEILOPALATOSCHISIS UNILATERALIS COMPLETA]
+∞
17.1
16
*
ZSZ10
NOMESCO Finland
Secondary repair operation
196.4
17.0
17
*
SJX10
NOMESCO Finland
Orthodontic treatment/control appointment, short
7.9
15.1
23
35
Q37.0
ICD-10 Finland
Cleft hard palate with bilateral cleft lip
+∞
14.9
14
*
7491B
ICD-9 Finland
Cleft palate and cleft lip, Cleft lip[CHEILOSCHISIS UNILATERALIS INCOMPLETA]
+∞
13.8
13
*
SBB10
NOMESCO Finland
Dental impressions
5.3
13.6
33
80
SAA04
NOMESCO Finland
Special examination of mouth
6.9
13.3
23
40
Q35.1
ICD-10 Finland
Cleft hard palate
+∞
12.7
12
*
ECB17
NOMESCO Finland
Operation of gingival cleft
+∞
12.7
12
*
4365
FHL
Correction of nasal deformity
+∞
11.6
11
*
DLW00
NOMESCO Finland
Correction of cleft nose
+∞
11.6
11
*
Q36.0
ICD-10 Finland
Cleft lip, bilateral
+∞
11.6
11
*
ZXD10
NOMESCO Finland
Scheduled procedure
3.7
11.1
59
252
4366
FHL
Upper jaw scar repair surgery
+∞
10.6
10
*
7491A
ICD-9 Finland
Cleft palate and cleft lip, Cleft lip[CHEILOSCHISIS UNILATERALIS COMPLETA]
+∞
10.6
10
*
4367
FHL
Bone transfer to the upper jaw
+∞
10.6
10
*
7491F
ICD-9 Finland
Cleft palate and cleft lip, Cleft lip[CHEILOGNATOSCHISIS UNILATERALIS INCOMPLETA]
+∞
10.6
10
*
SJC50
NOMESCO Finland
Removal of fixed orthodontic appliance with at least 7 brackets
10.2
10.3
20
23
SJD00
NOMESCO Finland
Removal and/or reactivation of orthodontic arch wire
9.2
10.2
21
27
ZZH21
NOMESCO Finland
Graft of patients own bone, small pieces
60.0
9.8
11
*
SJD20
NOMESCO Finland
Placement of modified orthodontic arch wire
10.9
9.7
18
19
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
*
4364
FHL
Pharyngeal tongue plastic
+∞
9.5
9
*
Z2221
NOMESCO Finland
Medical doctor
3.2
8.4
49
214
ZSZ00
NOMESCO Finland
Primary repair operation
+∞
8.4
8
*
7492C
ICD-9 Finland
Cleft palate and cleft lip, Cleft palate with cleft lip[CHEILOPALATOSCHISIS BILATERALIS COMPLETA]
+∞
8.4
8
*
EEC05
NOMESCO Finland
Le Fort I osteotomy
+∞
8.4
8
*
Q37.99
ICD-10 Finland
Cleft palate with cleft lip NOS
+∞
8.4
8
*
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
8.4
8
*
SJD30
NOMESCO Finland
Demanding placement of orthodontic arch wire
16.0
8.4
13
9
DLD20
NOMESCO Finland
Rhinoplasty
36.1
8.2
10
*
EBB10
NOMESCO Finland
Insertion of dental implant
24.0
8.2
11
5
SJB60
NOMESCO Finland
Adjustment and grinding of removable appliance
12.0
8.0
14
13
4204
FHL
Molding of the cartilaginous part of the nose
85.2
7.5
8
*
SPC20
NOMESCO Finland
Implant borne crown
85.2
7.5
8
*
74913
ICD-8 Finland
Cleft palate and cleft lip, Cheilognathoschisis bilateralis
+∞
7.4
7
*
4368
FHL
Closing the fistula of the mouth
+∞
7.4
7
*
4122
FHL
Tympanostomy (tympanic tube)
11.1
7.2
13
13
EB1MA
NOMESCO Finland
Cephalometry with X-ray
6.7
6.9
17
29
K00.00
ICD-10 Finland
Hypodontia
15.4
6.5
10
7
SBB00
NOMESCO Finland
Clinical photography of mouth and teeth
6.4
6.4
16
28
SJB00
NOMESCO Finland
Fitting of removable appliance incl. patient instructions
6.4
6.4
16
28
4362
FHL
Nozzle reconstruction
+∞
6.3
6
*
7490B
ICD-9 Finland
Cleft palate and cleft lip, Cleft palate[PALATOSCHISIS INCOMPLETA]
+∞
6.3
6
*
SJD40
NOMESCO Finland
Placement of prefabricated palatal or lingual arch
6.7
6.2
15
25
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
7
26
2.79
1.60
2.3
1.3
—
—
—
0
0
0
38
0.00
1.37
0.0
4.3
—
48.84
—
0
38
30
211
1.56
1.22
2.5
2.6
—
—
—
0
0
8
40
2.07
1.14
25.8
12.8
0.76
0.70
%
—
8
40
8
41
2.02
1.11
26.0
12.6
1.30
1.53
%
—
8
41
22
150
1.57
1.02
6.5
2.9
233.00
1026.99
ng/l
0.46
14
84
21
142
1.58
1.01
3.3
3.0
1.60
3.33
e6/l
—
10
70
14
214
0.61
0.94
1.1
1.4
9.66
19.09
iu/ml
—
5
61
20
137
1.55
0.91
2.2
2.5
—
—
—
0
0
22
155
1.51
0.89
3.4
2.8
1.85
0.65
e6/l
0.61
11
83
12
75
1.67
0.78
8.6
9.4
24.75
24.05
mmol/l
0.19
12
75
7
38
1.89
0.75
29.7
12.4
24.43
24.35
mmol/l
—
7
38
5
27
1.89
0.69
6.0
8.2
—
777.60
—
0
5
12
78
1.60
0.68
1.0
1.1
—
—
—
0
0
12
78
1.60
0.68
20.3
10.0
1.26
1.26
mmol/l
0.00
12
78
12
78
1.60
0.68
20.5
13.7
25.92
25.53
mmol/l
0.14
12
78
40
332
1.31
0.65
1.3
1.5
0.74
1.15
u/ml
—
10
82
0
20
0.00
0.61
0.0
1.6
—
—
—
0
0
8
52
1.58
0.61
1.8
1.4
—
—
—
0
0
54
611
0.79
0.60
6.5
11.9
4.13
3.87
e9/l
0.18
43
540
0
22
0.00
0.60
0.0
1.3
—
—
—
0
0
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
23
178
1.36
0.59
1.3
1.6
—
—
—
0
0
56
498
1.24
0.50
3.2
3.2
0.00
0.00
estimate
—
6
89
112
1144
0.64
0.49
16.4
18.8
89.23
89.46
fl
0.25
112
1135
112
1144
0.64
0.49
18.3
19.3
41.28
41.47
%
0.21
112
1135
112
1144
0.64
0.49
16.8
19.0
138.09
139.38
g/l
0.49
112
1135
95
897
1.29
0.48
3.9
3.6
5.72
5.68
mmol/l
0.09
90
852
13
96
1.40
0.44
1.6
1.4
43.35
23.75
iu/l
1.17
13
73
56
505
1.21
0.42
3.3
3.2
0.00
0.00
estimate
—
6
87
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.7
—
—
—
0
0
0
16
0.00
0.41
0.0
1.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
5
35
1.45
0.40
1.4
1.6
—
—
—
0
0
5
35
1.45
0.40
5.8
8.1
2.00
1.47
%
—
5
35
55
504
1.17
0.32
3.3
3.3
0.00
0.00
estimate
—
5
84
16
129
1.28
0.32
2.6
2.7
12.57
14.58
umol/l
0.67
16
122
13
102
1.31
0.31
7.6
8.8
6.45
5.75
kpa
1.17
13
102
13
102
1.31
0.31
9.7
8.5
104.31
104.36
mmol/l
0.01
13
102
42
380
1.16
0.28
2.5
2.9
0.00
0.00
estimate
—
5
78
15
122
1.26
0.28
10.5
10.4
1.18
1.14
mmol/l
0.34
15
111
27
236
1.19
0.27
4.1
2.9
0.24
0.26
e6/l
0.05
20
159
5
71
0.69
0.27
1.0
1.1
1.47
1.58
g/l
—
5
71
5
72
0.68
0.27
1.0
1.1
0.86
0.88
g/l
—
5
72
23
263
0.84
0.25
1.5
2.8
8.50
16.60
ng/l
2.13
12
111
5
37
1.37
0.24
3.8
6.1
3.16
3.28
g/l
—
5
37
5
40
1.26
0.22
2.0
1.2
—
—
—
0
0
13
107
1.24
0.22
2.8
2.7
19.03
23.69
%
0.82
13
101
86
891
0.87
0.22
4.2
3.8
—
—
—
0
0
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
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
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
115.90
—
0
10
25
222
1.16
0.21
2.0
2.4
0.88
0.71
mg/l
0.18
18
167
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
12
0.00
0.21
0.0
1.1
—
—
—
0
0
11
91
1.23
0.18
6.2
9.0
4.56
4.60
kpa
0.02
11
91
31
283
1.13
0.18
2.9
2.4
—
—
—
0
0
7
62
1.14
0.17
2.1
2.8
—
—
—
0
0
14
120
1.19
0.17
2.4
2.4
—
—
—
0
0
8
69
1.17
0.17
1.3
1.5
—
—
—
0
0
8
71
1.14
0.16
2.3
5.3
—
—
—
0
0
32
300
1.09
0.11
1.6
2.5
0.00
0.00
estimate
—
5
72
5
48
1.04
0.09
4.8
5.1
90.20
99.19
%
—
5
48
6
53
1.14
0.09
2.2
1.6
—
—
—
0
0
5
61
0.81
0.08
1.6
2.0
1.57
4.10
mg/l
—
5
39
16
174
0.91
0.08
2.1
2.1
3.67
3.55
ratio
0.10
11
138
27
255
1.08
0.08
2.5
2.3
—
—
—
0
0
18
194
0.91
0.08
4.6
3.3
1.14
1.55
ug/l
0.80
18
177
8
75
1.07
0.07
1.4
1.3
—
—
—
0
0
8
91
0.87
0.07
1.5
1.8
—
—
—
0
0
16
149
1.09
0.05
7.1
7.0
0.79
0.81
mmol/l
0.31
16
143
22
209
1.06
0.05
3.6
3.8
7.33
7.22
mg/mmol
0.01
16
142
23
220
1.06
0.04
3.9
3.0
1.02
1.02
kg/l
0.41
11
131
107
1077
0.94
0.02
9.7
10.2
29.33
29.06
u/l
0.04
107
1067
11
117
0.93
0.02
2.1
2.2
0.55
0.71
ug/l
—
5
48
102
1018
1.01
0.00
10.5
12.4
23.17
20.45
mg/l
0.40
82
772
33
331
1.00
0.00
2.0
1.9
99.97
96.48
pmol/l
0.18
14
176
92
919
1.00
0.00
9.8
9.7
94.83
96.10
ml/min/173m2
0.22
82
824
24
237
1.02
0.00
3.1
3.4
0.33
0.01
estimate
—
6
87
33
327
1.01
0.00
2.3
1.7
—
—
—
0
0
36
355
1.02
0.00
7.2
6.7
38.21
37.78
g/l
0.20
36
344
40
405
0.98
0.00
3.1
3.1
—
—
estimate
—
0
0
13
132
0.98
0.00
1.6
1.9
3.70
3.59
mmol/l
—
7
98
12
118
1.02
0.00
1.4
1.9
—
—
—
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
(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
5
0.00
0.00
0.0
5.6
—
339.60
—
0
5
0
6
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
—
95.80
—
0
5
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
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
1.0
—
99.68
—
0
5
0
6
0.00
0.00
0.0
2.0
—
—
—
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
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
7.50
—
0
6
(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
5
0.00
0.00
0.0
1.0
—
0.31
—
0
5
0
5
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
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
113.57
—
0
7
0
7
0.00
-0.00
0.0
6.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
6.8
—
27.25
—
0
8
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
6.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
3.4
—
41.32
—
0
9
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
5.48
—
0
9
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
8
89
0.89
-0.00
1.6
1.9
—
—
—
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
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