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Short stature starting before birth

Endpoint Browser PheWeb

E4_SHORT_STATURE_STARTING_BEFORE_BIRTH

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 — E34.31
  • Hospital discharge: ICD-9 — 2594A
  • Cause of death: ICD-10 — E34.31
  • Cause of death: ICD-9 — 2594A

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

154

4. Check minimum number of events

None

154

5. Include endpoints

None

154

6. Filter based on genotype QC (FinnGen only)

124

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 124 63 61
Unadjusted period prevalence (%) 0.03 0.02 0.03
Median age at first event (years) 6.00 4.79 7.26

-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
146
Matched controls
1460
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E34.31
ICD-10 Finland
Short stature, prenatal disorder
3233.8
123.9
102
*
H01AC01
ATC
somatropin; parenteral
51.2
118.3
78
32
101
Kela drug reimbursment
Anterior pituitary hypofunction
36.4
63.0
42
16
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
13.3
53.9
69
92
2594A
ICD-9 Finland
Other endocrine disorders, Dwarfism, not elsewhere classified
+∞
51.1
46
*
301
Kela drug reimbursment
Growth hormone
52.5
33.2
39
10
E34.39
ICD-10 Finland
Short stature, not elsewhere classified
13.9
31.3
32
29
Z87.6
ICD-10 Finland
Personal history of certain conditions arising in the perinatal period
9.3
23.0
31
41
E23.01
ICD-10 Finland
Isolated deficiency of growth hormone
21.5
21.2
31
18
E34.30
ICD-10 Finland
Short stature NOS
28.5
20.9
28
12
E34.35
ICD-10 Finland
Abnormal growth retardation
8.9
20.3
28
38
602
Kela drug reimbursment
Children's severe malnutrition
7.4
19.0
31
51
P05.1
ICD-10 Finland
Small for gestational age
18.3
17.0
26
17
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.4
15.0
50
155
Z31.5
ICD-10 Finland
Genetic counselling
5.1
14.2
35
85
E23.02
ICD-10 Finland
Neurosecretory dysfunction of the growth hormone
33.1
11.9
15
5
186
Kela drug reimbursment
Growth retardation associated with renal failure (growth hormone)
11.0
11.7
22
23
7834C
ICD-9 Finland
Symptoms concerning nutrition, metabolism and development, Lack of expected normal physiological development[HÄIRIINTYNYT PITUUSKASVU]
+∞
10.5
10
*
F82
ICD-10 Finland
Specific developmental disorder of motor function
5.1
8.1
18
39
P07.3
ICD-10 Finland
Other preterm infants
4.7
7.7
19
45
Q87.19
ICD-10 Finland
Congenital malformation syndromes predominantly associated with short stature
84.2
7.5
8
*
R62.8
ICD-10 Finland
Other lack of expected normal physiological development
10.2
7.5
14
15
P27.1
ICD-10 Finland
Bronchopulmonary dysplasia originating in the perinatal period
42.1
6.8
8
*
Z3229
NOMESCO Finland
Other healthcare associate professional
3.2
6.7
31
115
BF20A, ,
NOMESCO Finland
+∞
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
37
32
15.15
37.57
6.4
6.2
2.30
2.55
ug/l
0.15
37
32
38
142
3.27
8.22
2.8
2.7
3.45
5.72
u/l
1.23
22
79
24
66
4.15
8.13
1.1
1.9
20.25
18.52
ng/l
0.28
24
66
37
143
3.13
7.52
2.9
2.7
5.26
7.95
iu/l
1.09
24
92
112
769
2.96
7.37
4.5
4.0
33.15
36.48
mmol/mol
8.39
112
739
43
186
2.86
7.13
2.5
3.0
288.86
329.91
nmol/l
0.80
43
181
13
18
7.81
6.07
1.0
1.0
—
—
—
0
0
7
8
9.11
3.81
1.3
1.5
551.43
434.88
mu/l
—
7
8
7
8
9.11
3.81
1.3
1.5
74.00
74.38
%
—
7
8
128
1065
2.64
3.81
5.6
4.9
1.92
1.94
mu/l
0.08
128
1017
6
7
8.87
3.29
1.0
1.1
—
—
—
0
0
46
286
1.89
2.99
2.3
1.6
106.24
95.08
pmol/l
0.83
21
140
8
18
4.64
2.84
1.9
2.3
—
—
—
0
0
9
23
4.10
2.82
2.0
2.4
21.88
12.93
umol/l
—
9
23
10
31
3.39
2.57
4.3
5.3
18.30
22.81
umol/l
—
10
31
83
636
1.71
2.56
12.8
12.8
—
—
—
0
0
39
251
1.76
2.21
4.2
4.5
7.38
7.39
ph
0.54
28
176
42
277
1.72
2.18
4.1
3.2
1.02
1.02
kg/l
0.59
31
183
42
278
1.72
2.15
1.4
1.3
—
—
—
0
0
28
165
1.86
2.10
2.8
5.6
0.21
0.21
g/l
0.22
28
158
10
38
2.75
2.05
1.4
1.2
—
—
—
0
0
8
183
0.40
1.99
2.3
2.0
—
—
—
0
0
10
39
2.68
1.98
1.4
1.2
1.86
2.05
g/l
—
10
32
10
39
2.68
1.98
1.4
1.2
6.57
6.26
g/l
—
10
31
10
39
2.68
1.98
1.4
1.2
0.46
0.42
g/l
—
10
29
26
153
1.85
1.96
3.5
2.0
7.93
11.65
nmol/l
1.80
26
140
103
871
1.62
1.88
13.8
14.6
3.67
3.54
e9/l
0.27
88
721
29
182
1.74
1.78
3.1
3.7
2.55
2.53
g/l
0.06
29
177
134
1227
2.12
1.74
12.6
8.9
—
—
—
0
0
22
129
1.83
1.68
28.4
16.6
106.14
105.47
mmol/l
0.25
22
129
15
78
2.03
1.61
26.4
15.1
13.82
15.42
kpa
0.40
15
73
15
78
2.03
1.61
26.5
15.0
0.17
-0.34
mmol/l
0.13
15
66
15
78
2.03
1.61
26.4
15.1
6.04
5.33
kpa
0.94
15
73
72
575
1.50
1.61
1.9
2.1
0.53
4.20
u/ml
—
10
106
97
825
1.52
1.58
11.3
12.2
0.04
0.04
e9/l
0.36
82
682
41
292
1.56
1.54
8.5
4.9
1.16
1.11
inr
0.25
28
240
99
848
1.52
1.54
13.1
13.2
0.22
0.22
e9/l
0.01
87
722
97
829
1.51
1.52
10.9
12.1
0.61
0.55
e9/l
1.16
82
686
10
45
2.31
1.50
1.4
2.3
—
6.67
—
0
7
9
39
2.39
1.46
2.4
4.1
2.72
2.21
mmol/l
—
9
39
5
17
3.01
1.37
1.6
2.5
—
—
—
0
0
33
452
0.65
1.34
2.2
2.1
—
—
—
0
0
98
851
1.46
1.32
11.1
12.0
2.48
2.31
e9/l
0.54
85
733
32
224
1.55
1.29
7.2
4.6
—
—
—
0
0
36
259
1.52
1.29
2.2
3.3
55.31
58.76
u/l
0.28
36
245
26
174
1.60
1.26
2.3
2.2
18.57
24.50
ng/l
0.21
12
75
11
57
2.01
1.20
17.8
19.6
0.75
0.68
%
0.20
11
57
12
65
1.92
1.17
1.8
1.8
—
—
—
0
0
65
533
1.40
1.16
9.9
10.6
—
—
—
0
0
11
59
1.93
1.10
17.8
19.1
0.97
1.06
%
0.23
11
59
118
1261
0.67
1.06
19.7
13.1
26.40
24.42
mg/l
0.27
90
915
16
99
1.69
1.05
1.4
1.3
396.25
74444908.62
pmol/l
0.49
16
90
5
22
2.32
1.04
1.6
1.7
—
—
—
0
0
10
53
1.95
1.04
1.6
1.2
—
—
—
0
0
25
175
1.52
1.01
1.5
1.7
266.67
354.29
titre
—
6
28
19
275
0.64
0.98
1.9
1.9
—
—
—
0
0
14
86
1.69
0.95
2.8
9.7
117.56
272.64
mg/l
—
9
74
21
144
1.54
0.94
24.0
16.0
1.47
1.39
mmol/l
0.10
21
138
26
187
1.47
0.93
1.3
1.4
—
118.57
—
0
7
11
63
1.81
0.93
17.8
18.0
93.64
94.32
%
0.09
11
63
12
72
1.73
0.88
1.0
1.1
—
—
—
0
0
31
400
0.71
0.88
2.5
2.3
—
—
—
0
0
17
113
1.57
0.87
2.4
2.1
—
—
—
0
0
19
132
1.51
0.81
1.7
1.7
—
—
—
0
0
6
33
1.85
0.80
1.5
1.6
—
—
—
0
0
9
56
1.65
0.74
8.6
4.3
43.36
38.54
%
—
9
56
5
25
2.03
0.73
1.8
2.1
—
—
—
0
0
7
40
1.79
0.72
2.3
5.5
—
—
—
0
0
5
26
1.95
0.71
2.2
5.5
7.39
7.39
ph
—
5
26
9
58
1.59
0.71
8.6
3.9
32.56
28.40
%
—
9
58
7
42
1.70
0.69
4.7
5.8
—
—
—
0
0
5
27
1.88
0.69
2.0
1.7
—
—
—
0
0
5
29
1.75
0.64
1.8
1.4
186.00
279.69
pmol/l
—
5
29
8
49
1.67
0.63
2.8
2.3
—
—
—
0
0
8
49
1.67
0.63
1.3
1.3
—
—
—
0
0
8
49
1.67
0.63
2.8
2.3
—
—
—
0
0
8
49
1.67
0.63
2.8
2.3
—
—
—
0
0
8
49
1.67
0.63
2.8
2.3
—
—
—
0
0
32
257
1.31
0.62
3.8
2.6
—
—
—
0
0
5
30
1.69
0.62
1.4
1.3
0.09
0.36
nmol/l
—
5
24
64
563
1.24
0.61
3.0
1.9
1.43
1.56
g/l
0.40
34
290
10
64
1.60
0.60
8.2
4.0
12.40
13.88
%
—
10
64
20
150
1.39
0.60
1.3
1.3
23.08
13.13
iu/ml
—
6
31
5
88
0.55
0.58
1.4
1.2
—
—
—
0
0
37
307
1.27
0.57
2.3
4.0
45.57
108.37
ug/g
1.53
26
250
8
55
1.48
0.57
1.1
2.2
—
—
—
0
0
6
38
1.60
0.55
2.2
2.2
—
—
—
0
0
9
61
1.51
0.55
8.4
4.1
74.78
70.95
%
—
9
61
9
61
1.51
0.55
8.4
4.1
9.89
9.07
%
—
9
61
130
1247
1.39
0.55
24.2
19.0
335.76
335.60
g/l
0.07
130
1242
19
144
1.37
0.54
2.2
2.0
—
—
—
0
0
42
358
1.24
0.52
22.6
15.2
24.67
24.98
mmol/l
0.30
42
358
58
515
1.21
0.49
4.6
3.4
6.45
6.29
ph
0.54
32
238
21
166
1.31
0.46
4.2
3.3
1448.77
842.47
ng/l
0.34
13
91
7
50
1.42
0.45
1.4
1.5
—
—
—
0
0
6
92
0.64
0.44
2.8
2.2
—
—
—
0
0
8
59
1.38
0.41
2.6
6.5
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
2.1
—
—
—
0
0
37
320
1.21
0.40
12.3
12.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.0
—
—
—
0
0
65
593
1.17
0.39
4.8
3.7
0.00
0.00
estimate
—
5
105
34
294
1.20
0.37
3.9
3.9
7.64
5.95
e6/l
0.28
29
263
28
327
0.82
0.37
1.8
1.9
—
—
—
0
0
65
596
1.16
0.36
4.8
3.7
0.00
0.00
estimate
—
6
100
6
42
1.45
0.36
1.0
1.0
1.40
1.51
g/l
—
6
42
6
42
1.45
0.36
1.0
1.0
0.95
0.86
g/l
—
6
42
38
430
0.84
0.36
1.4
1.7
—
—
—
0
0
59
538
1.16
0.35
2.5
2.4
—
—
—
0
0
18
146
1.27
0.34
4.5
6.4
67.37
61.98
e9/l
0.34
12
99
65
599
1.15
0.33
4.8
3.8
0.00
0.00
estimate
—
6
99
23
194
1.22
0.32
5.4
9.2
1.49
1.40
%
0.27
23
188
11
84
1.33
0.31
1.0
1.0
—
—
—
0
0
24
278
0.84
0.29
6.4
4.1
1.25
1.47
e6/l
0.12
13
148
8
62
1.31
0.28
1.1
1.3
—
—
—
0
0
13
105
1.26
0.26
1.9
1.4
—
—
—
0
0
38
343
1.15
0.25
4.8
5.2
6.41
8.43
mmol/l
1.49
32
325
33
367
0.87
0.25
4.0
3.8
—
—
—
0
0
6
82
0.72
0.25
3.7
9.1
—
0.03
—
0
30
7
94
0.73
0.23
1.6
1.8
—
—
—
0
0
5
39
1.29
0.23
2.0
2.5
—
—
—
0
0
37
336
1.14
0.23
15.4
12.0
7.36
7.37
ph
1.00
32
223
5
41
1.23
0.22
2.0
2.2
25.34
10.64
ug/l
—
5
35
5
41
1.23
0.22
2.4
6.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
7.6
—
6.90
—
0
10
0
10
0.00
0.21
0.0
3.8
—
44.70
—
0
10
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
0.46
—
0
10
0
12
0.00
0.21
0.0
3.8
—
32.50
—
0
12
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
16
136
1.20
0.21
1.1
1.3
0.76
5.35
u/ml
—
5
45
0
13
0.00
0.21
0.0
1.0
—
159.20
—
0
13
12
99
1.23
0.20
3.1
2.2
—
—
—
0
0
0
14
0.00
0.20
0.0
2.9
—
—
—
0
0
6
49
1.23
0.20
1.0
1.0
—
—
—
0
0
7
62
1.14
0.17
1.4
1.2
—
—
—
0
0
83
798
1.09
0.17
15.5
14.1
0.00
0.00
e9/l
0.50
62
602
5
67
0.74
0.17
1.6
2.9
53.56
49.87
%
—
5
67
34
313
1.11
0.17
15.4
11.6
23.29
23.67
mmol/l
0.51
34
313
31
285
1.11
0.16
4.9
3.8
0.00
0.00
estimate
—
5
99
24
217
1.13
0.16
2.6
5.9
2.98
2.45
mg/l
0.14
17
159
36
334
1.10
0.15
15.5
11.9
0.44
0.96
mmol/l
0.47
29
270
9
79
1.15
0.15
1.9
2.2
—
—
—
0
0
14
159
0.87
0.14
1.1
1.3
5.79
3.39
u/ml
—
9
121
11
126
0.86
0.12
1.7
1.9
—
—
—
0
0
14
124
1.14
0.11
3.0
1.4
—
—
—
0
0
27
290
0.92
0.11
18.0
9.5
—
—
—
0
0
31
330
0.92
0.11
17.6
9.5
5.24
5.02
kpa
0.95
31
322
16
146
1.11
0.08
1.8
2.5
—
—
—
0
0
5
61
0.81
0.08
2.8
5.7
3.30
3.27
mmol/l
—
5
61
5
63
0.79
0.08
1.2
1.2
—
—
—
0
0
7
63
1.12
0.08
1.4
1.2
—
—
—
0
0
74
721
1.05
0.08
14.8
8.1
5.79
6.17
mmol/l
0.90
74
673
7
66
1.06
0.08
1.3
1.3
—
—
—
0
0
6
72
0.83
0.08
49.0
15.3
0.58
0.58
%
—
6
72
45
467
0.95
0.07
4.2
3.7
—
—
estimate
—
0
0
29
305
0.94
0.07
1.7
2.2
—
—
—
0
0
13
141
0.91
0.05
3.8
2.9
4.74
3.84
e9/l
0.64
13
131
14
151
0.92
0.05
1.0
1.2
4.88
3.34
u/ml
—
9
110
14
150
0.93
0.04
4.1
1.8
—
—
—
0
0
23
220
1.05
0.04
1.7
1.7
—
—
—
0
0
11
118
0.93
0.03
1.1
1.3
—
—
—
0
0
125
1242
1.04
0.02
17.0
12.0
54.06
59.42
umol/l
2.15
125
1222
11
103
1.07
0.02
1.2
1.3
—
—
—
0
0
15
143
1.05
0.01
3.9
1.8
—
—
—
0
0
14
146
0.95
0.00
1.0
1.3
2.32
1.16
u/ml
—
8
109
17
176
0.96
0.00
2.1
1.9
—
—
—
0
0
52
526
0.98
0.00
7.4
5.9
58.76
35.27
e6/l
0.29
36
354
15
149
1.01
0.00
3.9
1.8
—
—
—
0
0
15
149
1.01
0.00
3.9
1.8
—
—
—
0
0
15
151
0.99
0.00
3.9
1.8
—
—
—
0
0
28
276
1.02
0.00
2.9
1.7
—
—
—
0
0
42
421
1.00
0.00
5.8
4.7
0.13
0.20
e6/l
0.27
31
302
10
103
0.97
0.00
1.5
2.2
—
—
—
0
0
46
461
1.00
0.00
5.9
4.8
10.91
23.06
e6/l
1.13
35
343
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
65.80
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
1989.00
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
3.88
—
0
5
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
8
87
0.91
-0.00
1.1
1.1
—
8.65
—
0
11
26
260
1.00
-0.00
2.6
6.9
—
—
—
0
0
7
71
0.99
-0.00
2.9
1.6
0.89
0.87
ug/l
—
7
63
0
6
0.00
-0.00
0.0
12.7
—
36.17
—
0
6
0
6
0.00
-0.00
0.0
1.8
—
3.87
—
0
6
0
9
0.00
-0.00
0.0
4.9
—
4.57
—
0
9
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
50
1.00
-0.00
3.2
7.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
7
72
0.97
-0.00
1.1
1.2
—
—
—
0
0
6
65
0.92
-0.00
2.5
5.8
333.33
358.18
mg/l
—
6
65
0
6
0.00
-0.00
0.0
4.7
—
1.38
—
0
6
5
51
0.98
-0.00
2.2
1.1
—
67.17
—
0
12
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: E4_SHORT_STATURE_STARTING_BEFORE_BIRTH – Short stature starting before birth

GWS hits: -

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