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Congenital hypothyroidism without goiter

Endpoint Browser PheWeb

E4_CONGENITAL_HYPOTHYROIDISM_WITHOUT_GOITER

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — E03.1
  • Cause of death: ICD-10 — E03.1

2 out of 7 registries used, show all original rules.

191

4. Check minimum number of events

None

191

5. Include endpoints

None

191

6. Filter based on genotype QC (FinnGen only)

180

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 180 157 23
Unadjusted period prevalence (%) 0.05 0.06 0.01
Median age at first event (years) 37.27 36.09 45.29

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
191
Matched controls
1910
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E03.1
ICD-10 Finland
Congenital hypothyroidism without goitre
+∞
276.4
191
*
H03AA01
ATC
levothyroxine sodium; systemic
165.0
121.5
185
300
104
Kela drug reimbursment
Thyroid insufficiency
29.9
120.9
98
65
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
19.0
99.2
121
159
E03.89
ICD-10 Finland
Other specified hypothyroidism
13.7
37.4
38
34
T86
ICPC
Hypothyroidism/myxoedema
12.3
35.7
39
39
E03
ICD-10 Finland
Other hypothyroidism
6.6
20.5
37
67
E03.80
ICD-10 Finland
Hypothyroidism caused by autoimmune thyroiditis
15.8
15.5
25
18
E03.0
ICD-10 Finland
Congenital hypothyroidism with diffuse goitre
49.4
15.4
18
*
O99.2
ICD-10 Finland
Endocrine, nutritional and metabolic diseases complicating pregnancy, childbirth and the puerperium
12.9
14.8
26
23
A10AE04
ATC
insulin glargine; parenteral
4.1
8.8
26
71
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
4.8
7.3
17
38
E03.8
ICD-10 Finland
Other specified hypothyroidism
31.3
7.2
9
*
A29
ICPC
General symptom/complaint other
3.0
7.0
35
134
SPAT1263
SPAT
Sampling
2.2
6.7
96
601
SPAT1254
SPAT
Administration of medicine
2.6
6.4
41
179
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
6.1
6.3
16
28
E03.3
ICD-10 Finland
Postinfectious hypothyroidism
+∞
6.3
6
*
24399
ICD-8 Finland
Cretinism of congenital origin
+∞
6.3
6
*
ZXE11
NOMESCO Finland
Procedure duration 60 to 89 minutes
3.1
6.2
27
95

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
181
1280
8.91
14.42
12.4
4.2
16.52
14.51
pmol/l
16.48
170
1170
183
1494
6.37
10.11
13.8
4.9
2.14
1.84
mu/l
1.14
171
1369
75
482
1.92
4.39
1.3
1.5
0.53
2.02
u/ml
1.91
18
116
86
583
1.86
4.24
17.2
11.5
1.41
1.21
inr
0.98
34
184
44
241
2.07
4.01
5.6
3.4
24.34
447.65
ng/l
2.73
32
155
16
57
2.97
3.62
1.7
1.9
5.78
10.23
u/l
1.07
16
42
99
732
1.73
3.44
9.1
6.8
1.21
1.22
mmol/l
0.23
81
624
102
762
1.73
3.40
5.9
6.3
11.09
9.92
umol/l
0.40
96
712
40
228
1.95
3.24
2.0
1.6
1389.42
1239.35
nmol/l
0.42
32
164
40
235
1.89
2.96
1.3
1.5
500.00
516.30
titre
0.03
12
54
102
784
1.65
2.89
5.3
6.1
3.07
2.85
%
0.37
97
738
25
126
2.13
2.81
9.9
5.0
—
—
—
0
0
150
1286
1.78
2.70
7.0
5.0
40.93
38.58
mmol/mol
1.31
135
1192
68
478
1.66
2.70
4.9
3.8
40.33
32.52
ng/l
0.21
40
300
77
559
1.63
2.69
1.9
1.8
91.59
96.83
pmol/l
0.40
39
264
107
842
1.62
2.69
4.8
6.1
0.58
0.54
e9/l
0.94
93
735
107
843
1.61
2.67
4.8
6.1
0.04
0.04
e9/l
0.08
93
733
51
334
1.72
2.63
4.8
3.9
—
—
—
0
0
89
673
1.60
2.62
7.7
7.0
1.22
1.22
mmol/l
0.16
84
618
109
866
1.60
2.60
4.7
6.0
1.96
1.95
e9/l
0.06
95
776
109
867
1.60
2.58
5.1
6.3
0.22
0.19
e9/l
0.80
96
767
37
222
1.83
2.56
3.2
2.4
12.94
13.88
umol/l
0.36
37
203
9
26
3.58
2.51
1.1
1.1
—
—
—
0
0
22
114
2.05
2.32
1.1
1.2
—
8.00
—
0
5
12
48
2.60
2.23
5.3
4.4
23.62
23.92
mmol/l
0.10
12
48
46
307
1.66
2.19
4.6
3.2
52.20
44.97
mg/l
0.07
29
187
79
605
1.52
2.09
5.5
4.8
34.59
36.40
g/l
1.97
74
569
55
390
1.58
2.04
4.4
3.9
—
—
—
0
0
10
39
2.65
1.97
1.2
2.0
3.80
3.76
mmol/l
—
10
34
14
65
2.25
1.93
1.6
1.7
—
—
—
0
0
13
60
2.25
1.82
3.5
3.7
—
—
—
0
0
47
330
1.56
1.81
5.3
3.7
11.33
7.58
mg/mmol
0.20
33
200
9
36
2.57
1.76
1.7
2.0
—
—
—
0
0
97
796
1.44
1.73
5.7
6.5
—
—
—
0
0
131
1138
1.48
1.72
8.6
7.0
78.48
81.42
u/l
0.35
125
1055
57
422
1.50
1.72
5.1
3.7
7.39
7.41
ph
0.99
17
83
11
49
2.32
1.67
1.6
2.0
1.13
1.41
g/l
0.52
11
42
6
20
3.06
1.59
1.0
1.1
—
—
—
0
0
53
396
1.47
1.51
5.2
3.2
6.66
7.80
mmol/l
1.28
46
336
18
103
1.83
1.47
1.7
1.4
—
—
—
0
0
9
39
2.37
1.45
1.2
2.1
3.11
2.83
e6/l
—
9
29
9
39
2.37
1.45
1.2
2.2
336.44
362.66
e6/l
—
9
32
47
346
1.48
1.44
3.6
4.0
1.02
1.02
kg/l
—
8
50
9
40
2.31
1.42
1.7
2.0
134.78
127.62
g/l
—
9
29
7
149
0.45
1.38
1.3
1.2
—
—
—
0
0
31
212
1.55
1.34
10.9
6.9
1.10
1.17
mmol/l
0.58
31
191
66
525
1.39
1.33
3.1
2.9
—
—
—
0
0
56
434
1.41
1.31
1.4
1.4
1.97
1.98
g/l
0.03
27
249
24
155
1.63
1.31
1.4
1.3
266.50
140.81
iu/ml
—
10
60
8
35
2.34
1.28
2.5
2.6
5.66
5.08
kpa
—
8
35
8
35
2.34
1.28
2.5
2.6
9.07
9.01
kpa
—
8
35
19
116
1.71
1.27
5.2
3.2
1.22
1.23
mmol/l
0.22
19
99
109
945
1.36
1.27
3.8
3.4
—
—
—
0
0
8
36
2.27
1.26
2.6
4.1
—
—
—
0
0
17
101
1.75
1.24
3.5
2.9
—
—
—
0
0
27
182
1.56
1.24
2.5
1.5
—
—
—
0
0
28
191
1.55
1.23
1.8
1.9
—
—
—
0
0
18
110
1.70
1.20
3.3
3.9
—
—
—
0
0
20
126
1.66
1.20
1.5
1.2
127.92
372.22
u/ml
0.66
20
112
21
135
1.62
1.17
4.4
5.6
4.96
5.02
kpa
0.12
21
129
0
33
0.00
1.17
0.0
2.8
—
1.32
—
0
33
0
33
0.00
1.17
0.0
1.1
—
3.75
—
0
18
5
111
0.44
1.17
1.4
1.4
—
—
—
0
0
166
1554
1.52
1.14
21.3
13.5
3.92
3.92
mmol/l
0.03
161
1495
7
30
2.38
1.13
1.3
2.5
—
—
—
0
0
130
1169
1.35
1.13
4.8
4.4
10.32
10.24
mm/h
0.03
122
1063
5
21
2.42
1.09
1.0
1.0
—
—
—
0
0
0
30
0.00
0.98
0.0
2.9
—
6.98
—
0
30
9
50
1.84
0.98
1.0
1.4
—
56.67
—
0
6
121
1092
1.29
0.94
5.9
4.7
15.00
70.73
e6/l
—
5
15
42
329
1.35
0.91
3.7
3.2
327.53
7804.73
umol/l
2.03
36
291
6
29
2.10
0.90
1.2
1.5
—
—
—
0
0
102
904
1.28
0.90
6.0
4.9
6.64
6.39
mmol/l
0.48
97
810
124
1126
1.29
0.90
5.3
4.5
—
—
—
0
0
51
415
1.31
0.86
3.8
4.3
0.00
0.00
estimate
-0.00
16
162
10
57
1.80
0.85
9.6
12.7
—
—
—
0
0
87
761
1.26
0.84
9.1
9.0
0.00
0.00
e9/l
-0.00
69
613
61
512
1.28
0.82
2.7
3.0
2.34
2.37
mmol/l
0.89
52
450
5
98
0.50
0.80
1.4
1.5
—
—
—
0
0
6
33
1.84
0.79
2.2
1.6
0.54
0.49
nmol/l
—
6
26
90
795
1.25
0.78
3.4
3.9
0.00
0.00
estimate
-0.00
15
173
21
286
0.70
0.77
1.4
1.6
—
—
—
0
0
17
116
1.51
0.77
1.2
1.1
—
—
—
0
0
11
67
1.68
0.77
1.3
1.2
—
—
—
0
0
73
632
1.25
0.75
2.1
1.9
—
—
—
0
0
24
177
1.41
0.75
1.4
1.1
—
—
—
0
0
21
151
1.44
0.75
2.0
2.5
35.79
27.92
u/l
0.50
14
130
7
39
1.82
0.73
1.0
1.2
—
—
—
0
0
7
39
1.82
0.73
2.4
2.8
—
—
—
0
0
5
25
2.03
0.73
1.4
1.4
—
—
—
0
0
45
539
0.78
0.70
1.4
1.6
—
—
—
0
0
5
95
0.51
0.68
1.4
1.4
—
—
—
0
0
5
95
0.51
0.68
1.4
1.4
—
—
—
0
0
151
1427
1.28
0.67
5.3
3.9
5.92
5.70
mmol/l
0.82
137
1302
37
299
1.29
0.66
1.5
1.3
17.64
34.24
iu/ml
1.20
13
92
7
44
1.61
0.66
2.3
5.2
—
—
—
0
0
153
1451
1.27
0.63
5.3
4.3
2.66
2.77
mmol/l
0.89
140
1332
5
30
1.68
0.62
1.0
1.1
—
—
—
0
0
5
30
1.68
0.62
1.0
1.1
—
—
—
0
0
0
20
0.00
0.60
0.0
1.0
—
—
—
0
0
11
72
1.56
0.60
1.1
2.5
—
—
—
0
0
175
1693
1.40
0.59
18.3
11.0
—
—
—
0
0
151
1434
1.25
0.59
4.9
4.0
4.55
4.69
mmol/l
1.12
140
1321
13
183
0.69
0.59
5.8
6.0
—
—
—
0
0
89
806
1.20
0.56
3.5
4.0
0.00
0.00
estimate
-0.00
16
159
21
160
1.35
0.56
1.2
1.3
—
—
—
0
0
42
353
1.24
0.56
1.7
2.1
0.64
0.96
mg/l
1.08
33
259
17
125
1.40
0.56
7.5
5.0
125.76
69.36
ng/l
0.91
17
115
17
125
1.40
0.56
3.9
3.8
4.21
63.20
ug/l
0.53
11
100
105
967
1.19
0.55
7.5
9.0
3.67
3.96
e9/l
0.90
90
847
88
798
1.19
0.54
4.4
5.5
0.00
0.00
estimate
-0.00
15
163
149
1418
1.23
0.53
4.9
3.9
1.47
1.54
mmol/l
1.38
137
1298
51
440
1.22
0.53
5.4
6.9
—
—
—
0
0
168
1624
1.29
0.49
18.0
12.4
18.21
21.32
mg/l
0.71
131
1224
170
1648
1.29
0.46
12.3
9.7
24.07
23.42
u/l
0.21
165
1578
5
32
1.58
0.42
4.6
1.6
2.96
3.91
mmol/24h
—
5
27
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
0.46
—
0
8
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
29
244
1.22
0.39
1.7
1.6
—
—
—
0
0
0
19
0.00
0.39
0.0
3.2
—
106.63
—
0
19
0
19
0.00
0.39
0.0
3.2
—
—
—
0
0
0
19
0.00
0.39
0.0
3.2
—
3.87
—
0
19
8
114
0.69
0.38
1.8
3.0
11.41
41.19
u/ml
—
8
108
22
180
1.25
0.38
1.8
1.4
—
—
—
0
0
9
69
1.32
0.38
3.1
2.2
—
—
—
0
0
13
99
1.34
0.36
1.1
2.7
66.30
66.29
g/l
0.00
13
90
141
1354
1.16
0.35
4.5
3.6
1.27
1.20
mmol/l
0.56
130
1231
51
460
1.15
0.32
3.4
3.5
—
—
—
0
0
18
147
1.25
0.32
3.3
3.8
—
—
—
0
0
7
54
1.31
0.31
2.0
1.8
—
—
—
0
0
13
103
1.28
0.29
5.6
6.2
—
—
—
0
0
14
172
0.80
0.28
5.4
6.3
0.42
1.78
mmol/l
1.10
14
133
14
113
1.26
0.27
3.1
2.9
69.51
71.22
e9/l
—
8
85
5
75
0.66
0.26
1.4
5.4
128.00
131.24
g/l
—
5
75
9
74
1.23
0.25
1.9
3.4
—
—
—
0
0
6
81
0.73
0.24
1.2
1.3
—
—
—
0
0
53
490
1.11
0.23
4.5
3.5
19.27
44.31
e6/l
1.08
42
372
15
125
1.22
0.23
1.5
1.4
—
—
—
0
0
8
102
0.77
0.21
1.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
115.24
—
0
10
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
2.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
29
321
0.89
0.20
1.6
1.7
—
—
—
0
0
6
52
1.16
0.19
5.2
2.8
—
—
—
0
0
7
59
1.19
0.18
1.4
1.8
—
—
—
0
0
7
62
1.13
0.17
1.1
1.2
—
—
—
0
0
43
400
1.10
0.17
1.8
1.7
—
—
—
0
0
14
161
0.86
0.16
7.7
6.8
105.00
104.61
mmol/l
0.12
14
161
12
102
1.19
0.15
1.2
1.3
—
—
—
0
0
182
1801
1.22
0.13
26.5
18.2
4.46
4.44
e12/l
0.27
177
1747
182
1801
1.22
0.13
26.6
18.3
39.89
39.49
%
0.82
173
1715
28
301
0.92
0.11
1.5
1.3
1.11
10.94
u/ml
2.42
11
114
5
45
1.11
0.10
21.0
8.3
—
—
—
0
0
5
46
1.09
0.09
1.0
1.1
—
—
—
0
0
11
97
1.14
0.09
4.1
5.7
24.56
24.66
mmol/l
0.04
11
97
6
57
1.05
0.08
1.0
1.2
—
—
—
0
0
6
57
1.05
0.08
1.5
1.3
—
—
—
0
0
5
63
0.79
0.08
1.2
1.1
—
—
—
0
0
68
660
1.05
0.08
3.1
3.6
—
6.02
—
0
53
8
74
1.08
0.07
6.9
2.1
—
—
—
0
0
8
92
0.86
0.07
6.5
1.6
—
—
—
0
0
53
547
0.96
0.07
2.7
2.6
—
—
—
0
0
27
258
1.05
0.05
2.8
3.1
4.31
3.11
e6/l
0.40
15
141
49
502
0.97
0.04
2.4
2.3
—
—
—
0
0
24
249
0.96
0.03
1.7
3.0
72.41
96.48
ug/g
0.31
17
188
142
1410
1.03
0.03
20.0
15.6
331.78
332.06
g/l
0.13
142
1403
20
208
0.96
0.02
1.0
1.2
—
—
—
0
0
46
452
1.02
0.01
3.2
3.3
—
—
—
0
0
38
373
1.02
0.01
3.1
3.8
—
—
—
0
0
10
94
1.07
0.01
1.3
1.6
—
—
—
0
0
16
154
1.04
0.00
1.5
1.4
—
—
—
0
0
46
466
0.98
0.00
2.3
2.0
—
—
—
0
0
13
126
1.03
0.00
1.2
1.5
—
—
—
0
0
18
184
0.98
0.00
1.2
1.2
—
—
—
0
0
20
204
0.98
0.00
1.9
2.0
—
—
—
0
0
14
139
1.01
0.00
3.6
9.3
26.31
25.30
mmol/l
0.48
14
139
45
454
0.99
0.00
3.6
3.3
0.17
0.36
e6/l
0.73
33
340
60
599
1.00
0.00
4.9
4.2
78.53
73.73
e6/l
0.04
44
400
10
95
1.06
0.00
1.8
1.9
—
—
—
0
0
16
158
1.01
0.00
7.4
9.8
—
—
—
0
0
0
9
0.00
0.00
0.0
18.7
—
12.21
—
0
9
9
98
0.91
-0.00
5.9
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
13
130
1.00
-0.00
14.0
8.1
10.58
7.56
mmol/l
0.68
13
122
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
9
97
0.92
-0.00
5.9
1.6
—
—
—
0
0
7
78
0.89
-0.00
7.3
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
1.04
—
0
8
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
57
0.87
-0.00
1.4
6.4
0.70
0.73
%
—
5
57
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
6
0.00
-0.00
0.0
1.5
—
1.23
—
0
6
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
8.9
—
8.87
—
0
7
0
6
0.00
-0.00
0.0
1.3
—
1.61
—
0
6
0
5
0.00
-0.00
0.0
4.4
—
—
—
0
0
9
98
0.91
-0.00
5.9
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
6.48
—
0
5
5
59
0.84
-0.00
1.4
6.2
1.50
1.10
%
—
5
59
9
99
0.90
-0.00
1.6
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
10.8
—
—
—
0
0
5
54
0.92
-0.00
9.8
1.7
—
—
—
0
0

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: E4_CONGENITAL_HYPOTHYROIDISM_WITHOUT_GOITER – Congenital hypothyroidism without goiter

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).