No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
150 |
4. Check minimum number of eventsNone |
150 |
5. Include endpointsNone |
150 |
6. Filter based on genotype QC (FinnGen only) |
142 |
Control definitions (FinnGen only)
- Control exclude
- E4_ENDOGLAND
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Disorders of puberty, other/unspecified
based on the number of shared cases.
Similar with more cases:
- Disorders of puberty
- Disorders of puberty, all
- Disorders of other endocrine glands
- Endocrine, nutritional and metabolic diseases
- 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 | 2778 | 2033 | 744 |
| Only index persons | 2125 | 1439 | 686 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.06 | 0.02 |
| Only index persons | 0.04 | 0.05 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 9.61 | 7.65 | 14.97 |
| Only index persons | 10.35 | 8.12 | 15.01 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 142 | 110 | 32 |
| Unadjusted period prevalence (%) | 0.03 | 0.04 | 0.01 |
| Median age at first event (years) | 10.77 | 9.48 | 15.21 |
-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
- 150
- Matched controls
- 1500
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
89.9
77
*
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
1501.6
86.7
76
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
19.7
48.8
42
29
E30.09
ICD-10 Finland
Delayed puberty NOS
+∞
19.2
18
*
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
6.3
16.1
31
60
E30.1
ICD-10 Finland
Precocious puberty
165.4
14.7
15
*
H03AA01
ATC
levothyroxine sodium; systemic
4.3
13.4
43
128
L02AE02
ATC
leuprorelin; implant, parenteral
27.1
12.8
17
7
E34.35
ICD-10 Finland
Abnormal growth retardation
70.6
11.8
13
*
E30.00
ICD-10 Finland
Familial delayed puberty
+∞
11.6
11
*
E22.80
ICD-10 Finland
Central precocious puberty
117.9
10.6
11
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
9.5
9
*
H01AC01
ATC
somatropin; parenteral
+∞
9.5
9
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.2
9.2
27
74
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
25.9
9.1
12
5
G03FB08
ATC
dydrogesterone and estrogen; systemic
14.4
7.5
12
9
E28.2
ICD-10 Finland
Polycystic ovarian syndrome
84.1
7.5
8
*
101
Kela drug reimbursment
Anterior pituitary hypofunction
+∞
7.3
7
*
104
Kela drug reimbursment
Thyroid insufficiency
6.3
6.4
16
28
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.1
6.3
18
48
E23.01
ICD-10 Finland
Isolated deficiency of growth hormone
+∞
6.3
6
*
E23.00
ICD-10 Finland
Panhypopituitarism
+∞
6.3
6
*
E03.89
ICD-10 Finland
Other specified hypothyroidism
8.3
6.3
13
17
Z01.1
ICD-10 Finland
Examination of ears and hearing
3.0
6.2
32
126
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
40
63
8.29
25.84
3.5
1.8
5.02
5.99
u/l
0.27
28
42
38
62
7.87
23.68
3.3
1.7
9.77
14.31
iu/l
0.44
30
43
29
52
6.67
16.27
2.3
1.6
5.95
10.35
nmol/l
1.49
24
45
16
11
16.10
10.26
5.0
1.2
29.84
22.82
nmol/l
0.72
16
11
10
6
17.71
6.84
1.9
1.0
4.60
3.77
nmol/l
—
10
6
97
681
2.20
5.01
6.9
6.1
99.78
90.84
u/l
0.61
91
637
119
914
2.46
4.87
6.3
3.6
14.63
14.39
pmol/l
0.46
109
810
21
77
3.01
4.57
2.0
1.5
400.86
346.92
mu/l
0.22
21
72
49
290
2.02
3.75
1.7
1.5
86.27
92.14
pmol/l
0.44
26
136
95
710
1.92
3.59
12.8
9.6
3.35
3.81
e9/l
1.76
84
607
28
135
2.32
3.56
3.4
4.8
273.92
915.96
ng/l
1.28
23
110
80
587
1.78
3.00
5.4
5.0
6.14
6.23
mmol/l
0.12
74
519
57
379
1.81
2.98
4.2
3.3
—
—
—
0
0
99
778
1.80
2.89
3.6
2.8
1.19
1.15
mmol/l
0.15
90
733
66
464
1.75
2.83
11.2
7.7
1.22
1.22
mmol/l
0.27
61
416
124
1062
1.97
2.55
7.2
4.1
1.77
1.84
mu/l
0.25
115
976
105
860
1.74
2.45
3.5
2.9
5.49
5.51
mmol/l
0.06
97
779
5
8
6.42
2.39
15.0
4.0
16.41
26.64
ug/l
—
5
8
82
634
1.65
2.34
3.6
2.7
76.87
54.71
ug/l
0.51
73
580
49
332
1.71
2.31
4.2
3.1
0.22
0.31
e6/l
0.21
37
246
102
837
1.68
2.28
3.5
3.0
4.53
4.48
mmol/l
0.17
92
782
96
776
1.66
2.27
6.1
4.2
9.84
8.11
mm/h
0.92
89
707
9
29
3.23
2.26
1.3
1.2
—
—
—
0
0
9
29
3.23
2.26
1.3
1.2
—
—
—
0
0
100
824
1.64
2.13
3.5
2.9
1.46
1.45
mmol/l
0.07
89
771
5
10
5.13
2.08
1.0
1.0
—
—
—
0
0
7
20
3.62
2.08
1.4
2.2
—
—
—
0
0
88
706
1.60
2.06
4.2
3.5
36.60
37.18
mmol/mol
0.23
82
655
28
168
1.82
1.98
9.2
7.2
5.98
5.77
kpa
0.84
28
163
133
1196
1.99
1.94
14.6
10.4
16.86
22.64
mg/l
1.79
106
846
100
837
1.58
1.88
3.8
3.1
2.79
2.71
mmol/l
0.39
91
775
122
1082
1.68
1.69
17.5
10.7
3.91
3.88
mmol/l
0.48
117
1039
122
1083
1.68
1.68
17.9
10.7
139.64
139.55
mmol/l
0.18
117
1041
25
156
1.72
1.56
9.7
7.3
4.76
4.95
kpa
0.23
25
151
27
173
1.68
1.54
8.6
8.3
1.17
1.23
mmol/l
0.67
27
161
31
207
1.63
1.51
1.7
3.6
1.24
1.45
mg/l
0.16
21
143
29
191
1.64
1.49
2.3
3.0
13.77
4.11
e6/l
0.35
13
106
98
839
1.48
1.48
10.1
7.9
105.83
102.35
ml/min/173m2
0.68
80
600
7
28
2.57
1.47
1.3
1.2
—
—
—
0
0
35
243
1.57
1.46
3.4
2.6
—
—
—
0
0
5
16
3.19
1.45
1.2
1.2
—
—
—
0
0
30
201
1.62
1.44
2.7
2.9
1.20
0.86
e6/l
0.33
15
115
16
89
1.89
1.44
4.6
8.2
108.69
105.36
mmol/l
0.65
16
89
5
17
3.00
1.37
1.8
1.7
—
—
—
0
0
41
300
1.50
1.35
6.9
8.5
1.08
1.11
inr
0.31
14
99
31
220
1.52
1.17
3.9
3.1
28.53
24.54
ng/l
0.08
15
106
40
300
1.45
1.16
2.7
2.8
3.53
2.57
mg/l
1.33
32
246
5
20
2.55
1.16
1.8
1.2
—
—
—
0
0
5
20
2.55
1.16
1.8
1.8
—
—
—
0
0
7
31
2.32
1.12
7.0
2.4
—
—
—
0
0
46
573
0.72
1.08
2.4
2.0
—
—
—
0
0
21
142
1.56
0.99
8.4
7.1
0.82
0.81
mmol/l
0.11
21
132
7
37
1.93
0.95
1.0
1.9
—
—
—
0
0
6
27
2.27
0.94
1.5
1.2
—
—
—
0
0
6
28
2.19
0.92
4.2
4.7
48.87
51.62
%
—
6
28
6
29
2.11
0.90
1.7
1.7
—
—
—
0
0
12
72
1.72
0.88
5.4
4.6
—
—
—
0
0
22
155
1.49
0.87
13.8
5.8
3.05
1.04
mmol/l
1.05
17
116
6
31
1.97
0.85
1.7
1.7
—
—
—
0
0
15
97
1.61
0.85
1.4
1.8
—
—
—
0
0
23
166
1.46
0.82
13.9
9.0
26.54
24.84
mmol/l
1.44
23
166
6
33
1.85
0.80
1.2
1.5
—
—
—
0
0
110
1180
0.75
0.80
4.3
4.0
—
—
—
0
0
5
28
1.81
0.67
1.8
2.0
—
—
—
0
0
14
96
1.51
0.64
1.4
1.7
—
—
—
0
0
13
89
1.50
0.60
1.5
1.5
—
—
—
0
0
0
23
0.00
0.59
0.0
1.3
—
—
—
0
0
6
35
1.74
0.58
1.3
1.1
—
—
—
0
0
6
36
1.69
0.57
1.3
1.1
—
—
—
0
0
8
55
1.48
0.57
1.0
1.3
—
—
—
0
0
10
66
1.55
0.54
2.2
8.7
94.20
98.06
%
—
10
66
11
75
1.50
0.52
1.5
1.4
—
—
—
0
0
11
75
1.50
0.52
1.5
1.4
—
—
—
0
0
11
75
1.50
0.52
1.5
1.4
—
—
—
0
0
11
75
1.50
0.52
1.5
1.4
—
—
—
0
0
19
145
1.36
0.52
1.3
1.2
39.94
7.64
u/ml
—
7
58
54
473
1.22
0.52
3.5
2.8
—
—
—
0
0
33
278
1.24
0.45
6.4
3.2
0.00
0.00
estimate
-0.00
14
107
25
204
1.27
0.44
1.5
1.4
—
—
—
0
0
5
31
1.63
0.43
1.0
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
3.5
—
—
—
0
0
0
15
0.00
0.41
0.0
3.5
—
—
—
0
0
17
133
1.31
0.40
2.2
1.9
—
—
—
0
0
60
542
1.18
0.40
5.5
3.2
0.00
0.00
estimate
-0.00
12
110
59
533
1.18
0.39
7.4
4.6
0.00
0.00
estimate
-0.00
14
109
59
534
1.17
0.38
5.5
3.2
0.00
0.00
estimate
-0.00
15
110
9
68
1.34
0.38
3.8
2.8
—
—
—
0
0
5
77
0.64
0.36
1.8
2.0
—
—
—
0
0
17
137
1.27
0.34
1.4
1.9
—
—
—
0
0
6
46
1.32
0.33
3.2
14.1
1.15
1.28
%
—
6
46
6
46
1.32
0.33
2.0
1.8
18.00
65.00
u/ml
—
6
46
6
46
1.32
0.33
2.0
2.0
—
—
—
0
0
6
46
1.32
0.33
3.2
14.1
0.43
0.68
%
—
6
46
21
249
0.82
0.32
2.0
1.9
—
—
—
0
0
7
98
0.70
0.32
1.9
1.7
—
—
—
0
0
19
157
1.24
0.31
1.4
1.2
20.00
22.82
iu/ml
—
5
37
7
54
1.31
0.31
1.7
1.8
—
—
—
0
0
26
299
0.84
0.29
2.6
2.0
—
—
—
0
0
10
77
1.32
0.27
1.6
1.5
—
—
—
0
0
9
73
1.25
0.26
1.6
1.5
—
—
—
0
0
17
143
1.21
0.24
3.4
3.4
43.60
812.25
ng/l
—
5
75
5
38
1.33
0.23
1.6
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
186.92
—
0
12
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
7
60
1.17
0.18
1.7
2.3
1.24
1.23
mmol/l
—
7
49
6
79
0.75
0.16
2.0
1.5
—
—
—
0
0
13
150
0.85
0.15
4.2
2.4
761.05
4283.64
u/l
—
6
59
15
131
1.16
0.15
1.1
1.3
—
—
—
0
0
40
425
0.92
0.13
3.0
2.6
—
—
—
0
0
19
174
1.11
0.10
1.5
1.5
—
—
—
0
0
5
48
1.04
0.09
1.8
1.5
—
—
—
0
0
10
113
0.88
0.08
1.3
1.4
—
—
—
0
0
38
398
0.94
0.08
2.4
2.4
—
—
—
0
0
50
482
1.06
0.08
1.4
1.6
0.56
1.90
u/ml
1.32
11
88
10
93
1.08
0.02
1.6
1.3
—
—
—
0
0
39
388
1.01
0.00
6.1
3.1
—
—
—
0
0
14
138
1.02
0.00
1.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
4.4
—
214.14
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
18.66
—
0
5
0
8
0.00
0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.2
—
17.16
—
0
5
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
6
68
0.88
0.00
1.3
1.4
—
—
—
0
0
9
89
1.01
-0.00
2.1
1.7
—
—
—
0
0
7
73
0.96
-0.00
1.1
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
5
57
0.87
-0.00
1.6
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint E4_PUBDISNAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PUBDISNAS | 2.209 [1.53, 3.18] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.079 |
During the follow-up period (1.1.1998 — 31.12.2019), 97 out of 1798 females with E4_PUBDISNAS died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have E4_PUBDISNAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.179% | No data |
| 5 | 1.09% | No data |
| 10 | 2.848% | No data |
| 15 | 5.741% | No data |
| 20 | 9.391% | No data |
Relationships between endpoints
↥Index endpoint: E4_PUBDISNAS – Disorders of puberty, other/unspecified
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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