Short stature starting before birth

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

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 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.

147

4. Check minimum number of events

None

147

5. Include endpoints

None

147

6. Filter based on genotype QC (FinnGen only)

126

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 126 64 62
Unadjusted period prevalence (%) 0.03 0.02 0.03
Median age at first event (years) 5.76 4.97 6.59

-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
147
Matched controls
1470
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E34.31
ICD-10 Finland
Short stature, prenatal disorder
3287.9
125.2
103
*
H01AC01
ATC
somatropin; parenteral
50.6
119.1
79
33
101
Kela drug reimbursment
Anterior pituitary hypofunction
35.3
63.7
43
17
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
12.9
52.9
69
94
2594A
ICD-9 Finland
Other endocrine disorders, Dwarfism, not elsewhere classified
+∞
52.2
47
*
301
Kela drug reimbursment
Growth hormone
52.4
33.2
39
10
E34.39
ICD-10 Finland
Short stature, not elsewhere classified
12.9
30.0
32
31
Z87.6
ICD-10 Finland
Personal history of certain conditions arising in the perinatal period
9.5
23.9
32
42
E34.30
ICD-10 Finland
Short stature NOS
33.8
23.4
30
11
E23.01
ICD-10 Finland
Isolated deficiency of growth hormone
20.3
20.8
31
19
602
Kela drug reimbursment
Children's severe malnutrition
7.9
20.6
32
50
E34.35
ICD-10 Finland
Abnormal growth retardation
9.0
19.8
27
36
P05.1
ICD-10 Finland
Small for gestational age
18.3
16.9
26
17
Z31.5
ICD-10 Finland
Genetic counselling
5.4
14.9
34
77
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.3
14.6
49
152
186
Kela drug reimbursment
Growth retardation associated with renal failure (growth hormone)
11.6
12.5
23
23
E23.02
ICD-10 Finland
Neurosecretory dysfunction of the growth hormone
33.1
11.9
15
5
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
5.0
7.9
18
40
P07.3
ICD-10 Finland
Other preterm infants
4.6
7.5
19
46
Q87.19
ICD-10 Finland
Congenital malformation syndromes predominantly associated with short stature
84.2
7.5
8
*
P27.1
ICD-10 Finland
Bronchopulmonary dysplasia originating in the perinatal period
42.0
6.8
8
*
R62.8
ICD-10 Finland
Other lack of expected normal physiological development
8.5
6.8
14
18
R62.0
ICD-10 Finland
Delayed milestone
3.7
6.7
23
70
Z3229
NOMESCO Finland
Other healthcare associate professional
3.1
6.4
31
118

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
38
28
17.95
42.42
6.4
6.4
2.26
2.62
ug/l
0.20
38
28
36
124
3.52
8.89
2.8
2.5
3.40
5.97
u/l
1.38
23
73
33
111
3.54
8.43
3.0
2.6
5.14
8.27
iu/l
1.02
23
71
103
655
2.91
8.24
3.7
3.6
32.84
37.21
mmol/mol
10.57
103
627
22
63
3.93
7.03
1.1
1.8
—
—
—
0
0
40
174
2.78
6.51
2.3
3.0
289.13
326.37
nmol/l
0.65
40
169
13
17
8.27
6.27
1.0
1.0
—
—
—
0
0
116
870
2.58
5.35
4.5
3.9
14.24
14.31
pmol/l
0.12
116
823
123
992
2.47
4.11
4.8
4.2
1.97
1.96
mu/l
0.01
123
944
39
211
2.15
3.79
2.1
1.6
107.33
96.11
pmol/l
0.81
21
108
6
6
10.35
3.53
1.3
1.5
616.50
363.50
mu/l
—
6
6
6
6
10.35
3.53
1.3
1.5
75.00
73.83
%
—
6
6
25
117
2.37
3.40
3.1
1.9
7.72
11.27
nmol/l
1.35
25
103
7
11
6.62
3.22
2.3
1.4
—
—
—
0
0
10
29
3.62
2.75
4.1
5.2
18.30
22.45
umol/l
—
10
29
40
249
1.83
2.55
1.3
1.2
—
—
—
0
0
6
12
5.16
2.42
1.5
1.3
—
—
—
0
0
8
23
3.62
2.30
2.0
2.5
23.39
12.89
umol/l
—
8
23
10
36
2.90
2.18
1.4
1.2
—
—
—
0
0
7
19
3.81
2.18
2.0
2.3
—
—
—
0
0
10
37
2.82
2.11
1.4
1.2
6.57
6.24
g/l
—
10
29
10
37
2.82
2.11
1.4
1.2
0.46
0.43
g/l
—
10
28
10
37
2.82
2.11
1.4
1.2
1.86
2.14
g/l
—
10
30
89
718
1.61
2.05
11.1
12.1
—
—
—
0
0
100
832
1.63
2.01
12.5
13.6
3.61
3.60
e9/l
0.02
85
693
35
226
1.72
1.95
3.9
3.3
1.01
1.02
kg/l
—
9
55
94
776
1.59
1.91
9.6
11.2
0.04
0.04
e9/l
0.13
80
644
94
780
1.57
1.83
9.6
11.2
0.61
0.56
e9/l
0.85
80
648
132
1197
2.01
1.80
11.2
8.4
—
—
—
0
0
95
794
1.56
1.76
11.8
12.4
0.22
0.23
e9/l
0.11
84
677
24
144
1.80
1.71
2.7
5.9
0.20
0.21
g/l
0.31
24
138
10
41
2.54
1.68
1.9
1.5
—
—
—
0
0
8
168
0.45
1.59
2.1
2.0
—
—
—
0
0
95
806
1.51
1.55
9.6
11.0
2.49
2.35
e9/l
0.42
83
692
67
531
1.48
1.53
1.8
1.9
0.53
4.45
u/ml
—
8
91
26
385
0.61
1.51
2.2
1.9
—
—
—
0
0
61
478
1.47
1.46
9.9
11.5
—
—
—
0
0
8
34
2.43
1.31
1.7
4.1
4.13
2.23
mmol/l
—
8
34
10
48
2.16
1.31
1.5
1.2
—
—
—
0
0
6
25
2.46
1.25
1.8
1.3
—
—
—
0
0
14
79
1.85
1.22
1.4
1.3
421.14
94366694.51
pmol/l
0.49
14
71
5
22
2.32
1.04
1.6
1.5
—
—
—
0
0
9
51
1.81
0.96
7.9
4.2
42.64
38.49
%
—
9
51
19
127
1.57
0.94
1.2
1.2
23.08
13.00
iu/ml
—
6
31
5
105
0.46
0.92
2.2
1.7
—
—
—
0
0
17
111
1.60
0.92
1.8
1.6
—
—
—
0
0
62
520
1.33
0.92
2.7
1.8
1.39
1.54
g/l
0.55
30
260
6
29
2.11
0.90
1.7
1.2
—
—
—
0
0
19
130
1.53
0.86
2.1
1.9
—
—
—
0
0
10
57
1.81
0.86
1.7
1.7
—
—
—
0
0
10
58
1.78
0.82
2.1
1.6
—
—
—
0
0
7
125
0.54
0.82
7.0
1.7
—
—
—
0
0
27
202
1.41
0.80
6.7
4.6
—
—
—
0
0
10
59
1.75
0.78
7.2
3.9
13.50
14.51
%
—
10
59
29
371
0.73
0.77
2.5
2.1
—
—
—
0
0
9
53
1.74
0.77
7.9
3.7
32.33
28.89
%
—
9
53
9
54
1.71
0.76
1.0
1.1
—
—
—
0
0
9
56
1.65
0.74
7.8
4.0
10.00
8.88
%
—
9
56
9
56
1.65
0.74
7.8
4.0
74.33
70.79
%
—
9
56
5
25
2.03
0.73
1.8
2.0
—
—
—
0
0
33
410
0.75
0.72
1.4
1.6
—
—
—
0
0
21
153
1.43
0.72
2.5
2.1
12.48
26.50
ng/l
—
10
63
7
41
1.74
0.71
2.3
5.3
—
—
—
0
0
7
41
1.74
0.71
3.7
5.1
37.14
42.61
umol/l
—
7
41
24
180
1.40
0.71
1.4
1.4
—
112.86
—
0
7
7
42
1.70
0.69
4.7
5.8
—
—
—
0
0
18
245
0.70
0.69
1.8
1.8
—
—
—
0
0
5
27
1.88
0.69
2.0
1.7
—
—
—
0
0
30
235
1.35
0.69
3.4
2.6
—
—
—
0
0
115
1216
0.75
0.67
16.9
11.8
25.52
24.36
mg/l
0.13
81
831
29
229
1.33
0.63
2.1
3.2
56.03
59.55
u/l
0.20
29
217
8
50
1.63
0.62
2.6
6.7
—
—
—
0
0
8
52
1.57
0.60
1.3
3.2
—
—
—
0
0
34
277
1.30
0.60
7.3
4.4
1.14
1.13
inr
—
8
68
121
1145
1.32
0.59
10.0
9.8
27.27
27.99
u/l
0.17
121
1113
6
35
1.74
0.58
2.0
2.3
—
—
—
0
0
8
124
0.62
0.57
6.3
1.7
—
—
—
0
0
8
124
0.62
0.57
6.3
1.7
—
—
—
0
0
8
124
0.62
0.57
6.3
1.7
—
—
—
0
0
57
499
1.23
0.56
4.1
3.5
0.00
0.00
estimate
—
5
88
15
109
1.42
0.53
29.6
13.8
106.93
105.39
mmol/l
0.52
15
109
50
434
1.23
0.52
4.3
3.3
6.56
6.16
ph
—
9
57
33
275
1.26
0.49
2.1
3.7
59.59
116.92
ug/g
0.90
22
223
53
467
1.21
0.48
2.3
2.2
—
—
—
0
0
8
119
0.65
0.48
6.3
1.7
—
—
—
0
0
25
304
0.79
0.46
1.8
1.8
—
—
—
0
0
56
498
1.20
0.46
6.0
5.1
0.00
0.00
estimate
—
5
89
32
269
1.24
0.45
3.3
3.9
5.03
4.85
e6/l
0.04
27
239
8
56
1.45
0.43
1.1
2.1
—
—
—
0
0
13
96
1.39
0.43
1.8
1.4
—
—
—
0
0
5
32
1.58
0.42
1.4
1.3
—
—
—
0
0
8
58
1.40
0.42
1.1
1.3
—
—
—
0
0
5
33
1.53
0.41
3.2
7.3
—
—
—
0
0
28
234
1.24
0.41
2.8
3.3
—
—
—
0
0
0
16
0.00
0.41
0.0
1.8
—
—
—
0
0
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
5
34
1.49
0.41
2.4
5.9
—
—
—
0
0
56
503
1.18
0.40
4.1
3.6
0.00
0.00
estimate
—
5
84
29
244
1.23
0.40
3.9
3.8
0.00
0.00
estimate
—
5
87
6
43
1.41
0.35
33.8
11.9
—
—
—
0
0
16
127
1.29
0.35
27.9
13.7
1.61
1.45
mmol/l
0.16
16
121
6
45
1.35
0.34
24.7
13.6
0.85
0.74
%
—
6
45
6
89
0.66
0.34
2.3
2.0
—
—
—
0
0
6
46
1.32
0.33
24.7
13.3
0.92
1.11
%
—
6
46
30
342
0.85
0.31
4.2
3.6
—
—
—
0
0
34
383
0.85
0.30
6.1
4.6
—
—
—
0
0
126
1223
1.21
0.30
21.0
17.0
335.87
335.83
g/l
0.01
126
1213
7
57
1.24
0.29
2.1
1.9
—
—
—
0
0
36
322
1.16
0.27
14.8
11.7
0.37
1.03
mmol/l
0.60
28
254
19
160
1.22
0.27
1.7
1.6
266.67
355.56
titre
—
6
27
34
303
1.16
0.27
11.6
10.9
—
—
—
0
0
5
71
0.69
0.27
3.2
8.2
—
0.03
—
0
30
13
105
1.26
0.26
2.5
1.4
—
—
—
0
0
38
343
1.15
0.25
23.1
13.6
24.79
24.97
mmol/l
0.16
38
343
80
758
1.12
0.25
13.7
12.9
0.00
0.00
e9/l
-0.00
61
574
17
144
1.20
0.23
4.2
3.3
3080.00
1028.00
ng/l
—
9
84
5
39
1.29
0.23
2.0
2.4
—
—
—
0
0
29
323
0.87
0.22
18.3
9.2
5.23
5.02
kpa
0.83
29
311
12
98
1.24
0.22
2.7
2.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
29
322
0.88
0.21
18.3
9.3
—
7.40
—
0
6
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
163.22
—
0
12
0
12
0.00
0.21
0.0
3.7
—
32.50
—
0
12
33
299
1.13
0.21
15.1
11.3
23.27
23.69
mmol/l
0.53
33
299
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
9
115
0.77
0.20
2.1
2.5
—
—
—
0
0
0
14
0.00
0.20
0.0
2.9
—
—
—
0
0
0
14
0.00
0.20
0.0
1.3
—
2.02
—
0
14
6
50
1.21
0.20
24.7
12.4
91.83
94.67
%
—
6
50
6
51
1.18
0.19
1.5
1.2
—
—
—
0
0
6
52
1.16
0.19
1.5
1.2
—
—
—
0
0
7
61
1.15
0.18
1.3
1.3
—
—
—
0
0
5
66
0.75
0.17
2.2
2.0
—
—
—
0
0
5
65
0.76
0.17
1.2
1.2
—
—
—
0
0
26
286
0.89
0.17
18.4
9.1
—
—
—
0
0
11
93
1.20
0.15
1.2
1.3
—
—
—
0
0
29
267
1.11
0.14
4.2
3.6
586.54
605.83
mosm/kgh2o
0.14
24
233
22
242
0.89
0.14
6.2
4.1
1.25
1.48
e6/l
0.13
13
146
73
757
0.93
0.13
5.6
4.4
—
—
—
0
0
5
43
1.17
0.10
2.0
1.0
—
67.17
—
0
12
5
43
1.17
0.10
3.2
7.1
—
—
—
0
0
20
184
1.10
0.09
5.5
9.0
1.50
1.35
%
0.40
20
178
6
56
1.07
0.09
2.5
5.9
333.33
336.80
mg/l
—
6
56
7
83
0.84
0.07
4.3
2.1
—
—
—
0
0
13
119
1.10
0.06
1.1
1.2
0.76
5.29
u/ml
—
5
40
24
228
1.06
0.05
1.4
1.9
—
—
—
0
0
42
408
1.04
0.04
5.4
4.8
11.92
23.88
e6/l
0.97
33
315
37
380
0.96
0.03
5.9
4.6
0.04
0.20
e6/l
1.63
29
289
26
251
1.04
0.03
2.8
1.7
—
—
—
0
0
11
118
0.93
0.03
1.1
1.3
—
—
—
0
0
30
292
1.03
0.02
4.8
3.3
—
—
—
0
0
10
107
0.93
0.02
2.5
2.9
22.90
36.00
u/l
—
10
101
71
718
0.98
0.01
2.4
2.4
5.08
5.50
mmol/l
5.78
66
663
17
164
1.04
0.00
2.1
1.9
—
—
—
0
0
20
196
1.02
0.00
1.7
1.7
—
—
—
0
0
20
201
0.99
0.00
2.8
6.0
3.24
2.60
mg/l
0.15
14
148
46
462
0.99
0.00
6.9
5.6
60.57
44.86
e6/l
0.16
34
324
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
65.80
—
0
5
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
9
98
0.91
-0.00
1.3
2.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
5.4
—
4.51
—
0
8
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.0
—
134.40
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
3.88
—
0
5
0
9
0.00
-0.00
0.0
6.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.6
—
35314.29
—
0
7
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
3.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
8
80
1.00
-0.00
1.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
1989.00
—
0
5
5
53
0.94
-0.00
2.8
5.8
3.30
3.26
mmol/l
—
5
53
0
6
0.00
-0.00
0.0
1.8
—
3.87
—
0
6
0
6
0.00
-0.00
0.0
12.7
—
36.17
—
0
6
0
6
0.00
-0.00
0.0
3.7
—
1.53
—
0
6

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).