Congenital hypothyroidism without goiter

E4_CONGENITAL_HYPOTHYROIDISM_WITHOUT_GOITER

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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.

203

4. Check minimum number of events

None

203

5. Include endpoints

None

203

6. Filter based on genotype QC (FinnGen only)

183

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 183 159 24
Unadjusted period prevalence (%) 0.05 0.06 0.01
Median age at first event (years) 37.63 36.09 47.80

-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
194
Matched controls
1940
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E03.1
ICD-10 Finland
Congenital hypothyroidism without goitre
+∞
280.8
194
*
H03AA01
ATC
levothyroxine sodium; systemic
161.2
121.4
188
315
104
Kela drug reimbursment
Thyroid insufficiency
28.4
120.1
100
70
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
22.5
111.9
134
175
E03.89
ICD-10 Finland
Other specified hypothyroidism
15.5
46.0
44
36
T86
ICPC
Hypothyroidism/myxoedema
12.3
38.9
43
44
E03
ICD-10 Finland
Other hypothyroidism
7.4
26.5
44
74
E03.0
ICD-10 Finland
Congenital hypothyroidism with diffuse goitre
49.3
15.3
18
*
O99.2
ICD-10 Finland
Endocrine, nutritional and metabolic diseases complicating pregnancy, childbirth and the puerperium
12.9
15.3
27
24
E03.80
ICD-10 Finland
Hypothyroidism caused by autoimmune thyroiditis
14.2
14.9
25
20
A10AE04
ATC
insulin glargine; parenteral
3.6
7.6
26
79
24399
ICD-8 Finland
Cretinism of congenital origin
+∞
7.3
7
*
E03.8
ICD-10 Finland
Other specified hypothyroidism
31.3
7.2
9
*
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
4.7
7.1
17
39
A29
ICPC
General symptom/complaint other
2.8
7.0
40
165
SPAT1263
SPAT
Sampling
2.2
6.4
97
615
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
*
SPAT1254
SPAT
Administration of medicine
2.6
6.2
41
182

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
185
1413
7.66
14.20
14.5
4.8
16.51
14.60
pmol/l
15.45
176
1300
186
1614
4.69
6.63
16.3
5.7
2.08
1.85
mu/l
0.93
177
1503
98
661
1.98
5.13
17.9
11.3
1.21
1.17
inr
0.33
90
541
86
555
1.99
5.11
1.4
1.6
0.53
2.09
u/ml
2.16
23
136
90
627
1.81
3.98
5.7
6.5
—
—
—
0
0
72
479
1.80
3.64
1.9
2.2
156.96
166.10
u/l
0.06
67
460
17
64
2.82
3.50
2.1
2.1
1.80
5.89
iu/l
—
9
26
41
233
1.96
3.35
2.1
1.6
1380.01
1243.13
nmol/l
0.38
33
170
78
546
1.72
3.23
5.1
4.0
34.72
31.55
ng/l
0.09
47
351
109
837
1.69
3.19
10.6
7.3
1.21
1.22
mmol/l
0.87
93
720
11
30
3.82
3.14
1.1
1.1
—
—
—
0
0
72
498
1.71
3.09
2.4
2.7
2.81
2.67
mg/l
0.24
66
426
123
983
1.69
3.03
3.8
3.3
71.33
74.05
ug/l
0.10
117
924
12
41
3.05
2.67
2.9
3.9
92.08
90.76
%
0.31
12
41
45
286
1.75
2.56
6.0
3.5
23.12
516.34
ng/l
2.62
33
185
58
396
1.66
2.55
4.9
3.9
—
—
—
0
0
109
868
1.58
2.53
6.5
6.8
8.56
8.41
%
0.24
103
819
15
63
2.50
2.53
5.7
3.8
23.96
23.68
mmol/l
0.11
15
63
30
169
1.92
2.50
2.1
2.0
0.00
0.00
estimate
—
5
44
11
38
3.01
2.46
1.9
2.1
—
—
—
0
0
108
863
1.57
2.44
6.3
6.7
54.50
56.63
%
1.11
103
829
8
22
3.75
2.39
1.1
1.0
—
—
—
0
0
116
945
1.57
2.38
5.9
6.8
0.59
0.54
e9/l
1.16
101
815
108
866
1.56
2.38
6.4
6.8
2.97
2.86
%
0.17
101
817
108
866
1.56
2.38
6.5
6.8
0.63
0.67
%
0.28
102
814
25
135
1.98
2.35
10.4
4.9
7.42
7.35
ph
1.12
20
92
92
714
1.55
2.33
2.1
1.9
97.75
95.94
pmol/l
0.12
48
353
110
891
1.54
2.28
6.2
6.7
30.07
29.37
%
0.27
104
852
42
272
1.69
2.23
1.3
1.5
500.00
555.56
titre
0.12
12
63
96
759
1.52
2.20
9.4
7.4
1.21
1.22
mmol/l
0.61
91
704
115
947
1.53
2.16
5.9
6.8
0.04
0.04
e9/l
0.03
100
812
26
147
1.89
2.15
4.8
5.7
5.06
5.04
kpa
0.06
26
141
14
63
2.32
2.06
3.4
3.6
—
—
—
0
0
142
1232
1.57
2.04
10.2
7.9
92.72
80.92
u/l
0.57
135
1159
116
965
1.50
2.02
5.9
6.8
1.94
1.92
e9/l
0.12
100
857
117
979
1.49
1.96
6.2
7.0
0.21
0.19
e9/l
0.63
103
856
22
125
1.86
1.81
1.2
1.2
—
16.00
—
0
5
11
48
2.37
1.74
1.2
2.0
3.82
3.66
mmol/l
0.16
11
43
56
412
1.50
1.74
3.6
4.2
1.02
1.02
kg/l
0.12
40
255
28
175
1.70
1.69
1.4
1.3
243.09
133.06
u/ml
0.43
11
68
159
1439
1.58
1.66
7.8
5.7
39.58
38.23
mmol/mol
0.78
146
1348
16
85
1.96
1.60
2.1
2.0
0.00
0.00
estimate
—
5
33
75
594
1.43
1.58
3.5
3.0
—
—
—
0
0
65
505
1.43
1.51
3.8
4.5
0.00
0.01
estimate
0.50
20
192
7
153
0.44
1.51
1.3
1.3
—
—
—
0
0
64
496
1.43
1.51
5.1
3.9
7.40
7.40
ph
0.16
53
344
63
489
1.43
1.47
1.6
1.6
19.91
22.69
nmol/l
0.88
56
406
10
47
2.19
1.36
1.6
2.0
133.90
126.75
g/l
—
10
36
110
948
1.37
1.35
3.7
4.3
58.70
7.92
estimate
0.40
20
205
32
220
1.54
1.35
3.9
3.0
3.87
6.59
e9/l
0.88
27
195
21
130
1.69
1.33
4.5
3.1
0.27
0.80
e6/l
0.36
21
125
111
960
1.37
1.32
3.8
4.4
0.00
0.00
estimate
-0.00
20
194
10
48
2.14
1.30
3.1
2.4
7.41
7.42
ph
—
10
48
15
85
1.83
1.27
1.4
2.4
—
—
—
0
0
63
501
1.38
1.26
1.5
1.5
2.05
2.03
g/l
0.03
31
292
92
777
1.35
1.26
3.0
3.7
6.30
6.25
ph
0.13
45
395
8
36
2.27
1.26
2.5
2.6
5.66
5.09
kpa
—
8
36
8
36
2.27
1.26
2.5
2.6
9.08
9.01
kpa
—
8
36
109
946
1.35
1.24
3.7
4.2
0.00
0.00
estimate
-0.00
18
201
14
79
1.83
1.20
1.2
1.3
—
—
—
0
0
23
151
1.59
1.18
10.0
8.4
9.82
13.01
kpa
4.99
23
145
23
151
1.59
1.18
10.0
8.4
5.50
5.18
kpa
0.95
23
144
51
396
1.39
1.17
1.7
2.1
0.62
0.94
mg/l
1.38
39
296
0
35
0.00
1.16
0.0
2.9
—
7.16
—
0
35
31
221
1.48
1.12
2.1
2.0
—
—
—
0
0
23
330
0.66
1.09
1.6
1.7
—
—
—
0
0
9
46
2.00
1.05
1.2
2.1
3.11
17.91
e6/l
—
9
33
20
131
1.59
1.05
5.3
3.6
1.22
1.23
mmol/l
0.20
20
112
5
22
2.31
1.04
1.0
1.0
—
—
—
0
0
9
47
1.96
1.03
1.2
2.1
336.44
322.75
e6/l
—
9
36
5
23
2.20
0.98
1.0
1.8
—
—
—
0
0
28
201
1.46
0.98
2.6
1.6
—
—
—
0
0
7
36
1.98
0.98
1.3
2.4
—
—
—
0
0
7
36
1.98
0.98
3.9
2.2
9.74
5.85
pmol/l
—
7
36
130
1182
1.30
0.94
6.3
5.1
18.33
132.82
e6/l
—
6
17
6
27
2.26
0.94
1.0
1.1
—
3.94
—
0
5
63
522
1.31
0.94
5.7
3.3
6.27
7.97
mmol/l
2.81
54
442
22
152
1.50
0.93
3.5
2.6
6.50
6.18
ph
1.07
16
97
52
420
1.33
0.92
5.0
3.3
48.74
39.92
mg/l
0.09
32
264
5
102
0.48
0.92
1.4
1.6
—
—
—
0
0
11
63
1.79
0.92
2.5
5.1
36.86
36.94
°c
0.22
11
63
18
119
1.57
0.92
1.2
2.6
67.26
66.31
g/l
0.27
18
110
53
432
1.31
0.88
5.7
3.8
10.82
6.81
mg/mmol
0.23
35
263
117
1055
1.27
0.88
8.3
9.8
3.76
3.96
e9/l
0.56
103
920
50
607
0.76
0.88
1.5
1.7
—
—
—
0
0
6
30
2.03
0.87
1.3
1.6
16.65
19.05
ng/l
—
6
30
11
65
1.73
0.84
1.6
1.9
1.13
1.45
g/l
0.65
11
58
80
694
1.26
0.82
3.5
4.1
0.00
0.02
estimate
0.50
15
167
5
99
0.49
0.80
1.4
1.5
—
—
—
0
0
19
132
1.49
0.79
1.3
1.2
—
—
—
0
0
46
374
1.30
0.78
3.6
3.4
319.17
320.20
umol/l
0.02
40
337
5
25
2.03
0.73
1.6
1.4
—
—
—
0
0
112
1019
1.23
0.72
6.9
5.2
6.73
6.38
mmol/l
0.82
106
933
20
144
1.43
0.71
3.7
3.9
4.28
56.54
ug/l
0.54
13
115
21
153
1.42
0.70
1.5
1.2
131.83
417.31
u/ml
0.88
21
139
12
77
1.60
0.70
1.8
1.8
—
—
—
0
0
69
598
1.24
0.70
2.7
3.0
2.34
2.37
mmol/l
1.14
63
539
79
695
1.23
0.69
2.1
2.0
—
—
—
0
0
7
42
1.69
0.69
1.0
1.2
—
—
—
0
0
27
207
1.35
0.68
1.4
1.2
—
—
—
0
0
162
1542
1.31
0.67
5.8
4.5
5.91
5.72
mmol/l
0.79
151
1414
153
1448
1.27
0.65
4.7
3.9
1.23
1.20
mmol/l
0.29
142
1321
24
184
1.35
0.61
1.3
1.3
—
—
—
0
0
0
20
0.00
0.60
0.0
3.2
—
3.90
—
0
20
0
20
0.00
0.60
0.0
3.1
—
1.19
—
0
20
0
20
0.00
0.60
0.0
3.1
—
106.25
—
0
20
20
150
1.37
0.58
10.6
8.5
7.41
7.42
ph
0.14
11
76
8
125
0.62
0.56
1.8
3.1
11.41
42.42
u/ml
—
8
119
9
59
1.55
0.56
1.1
1.4
—
56.67
—
0
6
6
38
1.60
0.55
1.3
2.4
16.60
15.87
%
—
6
38
163
1564
1.26
0.53
6.1
5.2
2.62
2.72
mmol/l
0.80
149
1452
6
39
1.56
0.53
1.0
1.1
—
—
—
0
0
6
39
1.56
0.53
1.0
1.1
—
—
—
0
0
64
566
1.20
0.52
6.3
6.4
—
—
—
0
0
161
1548
1.24
0.48
5.6
4.7
4.53
4.65
mmol/l
0.90
150
1439
160
1539
1.23
0.46
5.5
4.6
1.45
1.53
mmol/l
1.50
147
1422
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
42
365
1.19
0.41
1.5
1.3
15.47
32.23
iu/ml
1.51
15
104
60
538
1.17
0.41
3.3
3.5
0.00
0.01
estimate
0.50
13
163
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
8
60
1.35
0.41
1.9
1.8
—
—
—
0
0
0
18
0.00
0.40
0.0
1.7
—
—
—
0
0
18
224
0.78
0.39
5.2
5.7
7.34
7.38
ph
—
6
143
18
146
1.26
0.33
9.1
5.1
118.94
69.58
ng/l
0.96
18
133
32
277
1.19
0.33
1.7
1.6
—
—
—
0
0
14
110
1.29
0.32
5.6
6.5
—
—
—
0
0
175
1712
1.23
0.31
21.4
14.4
18.36
21.35
mg/l
0.79
144
1352
18
148
1.24
0.30
2.7
2.4
298.40
5616.25
u/l
—
5
55
17
139
1.24
0.30
3.7
3.0
71.71
73.68
e9/l
—
10
99
8
106
0.74
0.30
1.0
1.1
—
—
—
0
0
12
94
1.29
0.29
5.4
2.1
—
—
—
0
0
18
214
0.82
0.28
1.2
1.2
—
—
—
0
0
21
178
1.20
0.27
2.0
2.6
35.79
27.94
u/l
0.50
14
149
33
292
1.16
0.27
1.7
3.1
82.58
94.38
ug/g
0.15
24
226
8
67
1.20
0.26
1.1
1.4
—
—
—
0
0
179
1759
1.23
0.26
19.9
12.2
—
—
—
0
0
18
151
1.21
0.26
3.4
3.9
—
—
—
0
0
90
852
1.11
0.25
12.7
11.1
0.00
0.00
e9/l
0.50
72
685
179
1760
1.22
0.25
25.9
17.2
75.25
68.59
umol/l
0.73
174
1725
9
75
1.21
0.25
3.2
2.3
—
—
—
0
0
12
96
1.27
0.25
1.8
1.9
—
—
—
0
0
18
211
0.84
0.24
5.1
5.9
0.94
1.60
mmol/l
0.34
18
175
146
1499
0.89
0.23
24.0
18.0
13.48
13.44
%
0.15
146
1488
16
135
1.20
0.22
1.5
1.4
—
—
—
0
0
15
126
1.21
0.21
1.7
1.9
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
114.85
—
0
11
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
2.0
—
—
—
0
0
48
446
1.10
0.19
4.1
4.9
—
—
—
0
0
7
62
1.13
0.17
1.1
1.2
—
—
—
0
0
32
349
0.90
0.17
1.8
1.9
—
—
—
0
0
62
592
1.07
0.13
4.5
3.7
25.42
42.28
e6/l
0.64
50
444
86
831
1.06
0.13
2.9
2.8
—
—
estimate
—
0
0
33
353
0.92
0.12
1.5
1.3
1.11
10.04
u/ml
2.61
11
132
46
437
1.07
0.11
2.0
1.8
—
—
—
0
0
14
156
0.89
0.10
1.4
1.5
—
—
—
0
0
5
48
1.04
0.09
25.4
8.1
—
—
—
0
0
23
214
1.08
0.09
1.9
1.5
—
—
—
0
0
7
68
1.03
0.08
7.7
1.7
—
—
—
0
0
67
652
1.04
0.07
2.9
3.0
—
—
—
0
0
9
88
1.02
0.07
1.3
5.2
0.53
0.64
%
—
9
88
60
583
1.04
0.06
2.5
2.3
—
—
—
0
0
31
296
1.06
0.06
2.7
3.3
4.31
3.05
e6/l
0.43
15
144
16
149
1.08
0.05
5.3
5.9
0.00
0.05
%
—
5
38
11
100
1.11
0.05
5.2
1.6
—
—
—
0
0
19
179
1.07
0.05
1.5
1.5
—
—
—
0
0
15
140
1.08
0.04
1.6
1.8
1.77
1.56
g/l
0.14
15
129
12
111
1.09
0.04
1.3
1.3
—
—
—
0
0
22
210
1.05
0.04
2.0
4.1
6.09
5.83
umol/l
0.09
22
181
18
189
0.95
0.03
12.3
9.7
—
—
—
0
0
11
118
0.93
0.03
5.3
1.6
—
—
—
0
0
15
142
1.06
0.02
2.8
5.4
0.60
0.50
%
—
5
40
13
123
1.06
0.01
4.7
1.6
—
—
—
0
0
51
518
0.98
0.01
3.6
3.5
0.16
0.35
e6/l
0.82
37
372
68
688
0.98
0.01
2.3
1.9
1.17
1.29
mmol/l
0.78
62
582
56
554
1.02
0.00
2.7
3.2
—
0.00
—
0
8
13
126
1.03
0.00
1.8
1.5
—
—
—
0
0
24
236
1.02
0.00
1.0
1.3
—
—
—
0
0
15
149
1.01
0.00
13.7
8.2
10.03
7.68
mmol/l
0.56
15
141
22
221
0.99
0.00
1.9
2.0
—
—
—
0
0
70
701
1.00
0.00
4.9
4.6
73.34
67.95
e6/l
0.05
51
465
12
123
0.97
0.00
4.9
1.6
—
—
—
0
0
16
163
0.98
0.00
9.2
9.5
25.78
25.28
mmol/l
0.21
16
163
51
508
1.01
0.00
2.4
2.2
—
—
—
0
0
22
215
1.03
0.00
9.8
6.7
103.95
104.41
mmol/l
0.17
22
215
11
108
1.02
0.00
1.3
1.6
—
—
—
0
0
13
125
1.04
0.00
4.7
1.6
—
—
—
0
0
6
64
0.94
0.00
1.5
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.4
—
0.61
—
0
5
0
5
0.00
-0.00
0.0
3.8
—
5.78
—
0
5
6
68
0.88
-0.00
1.2
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
26.75
—
0
8
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
60.60
—
0
5
9
89
1.01
-0.00
1.3
5.2
1.59
1.25
%
—
9
89
0
8
0.00
-0.00
0.0
9.9
—
8.90
—
0
8
8
82
0.97
-0.00
1.1
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
5
52
0.96
-0.00
1.2
1.1
—
19.37
—
0
13
7
70
1.00
-0.00
1.1
1.8
—
12.28
—
0
5
0
7
0.00
-0.00
0.0
1.6
—
0.00
—
0
7
0
8
0.00
-0.00
0.0
1.1
—
6.25
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
186
1857
1.04
-0.00
32.3
21.8
4.45
4.44
e12/l
0.15
181
1814
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
8
79
1.01
-0.00
1.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
5
52
0.96
-0.00
1.4
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
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).