No definition available.
Other sex chromosome abnormalities, male phenotype, not elsewhere classified
Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_MALE_PHENOT_NOT_ELSEW_CLASSIFIED
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleonly males |
244368 |
2. Check conditionsNone |
244368 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
164 |
4. Check minimum number of eventsNone |
164 |
5. Include endpointsNone |
164 |
6. Filter based on genotype QC (FinnGen only) |
67 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF12
- Parent code in ICD-10
- Q9
- Name in latin
- Aliae abnormitates chromosomatum sexualium patientis phaenotypo masculini non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Other sex chromosome abnormalities, male phenotype, not elsewhere classified
based on the number of shared cases.
Similar with more cases:
- Chromosomal abnormalities, not elsewhere classified
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
- Any prescribed medicine buy
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 67 | - | 67 |
| Unadjusted period prevalence (%) | 0.03 | - | 0.03 |
| Median age at first event (years) | 25.53 | - | 25.53 |
-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
- 128
- Matched controls
- 1280
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q98.0
ICD-10 Finland
Klinefelter syndrome karyotype 47,XXY
+∞
93.5
78
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
28.5
81.8
70
52
121
Kela drug reimbursment
Severe hypofunction of sexual glands
153.8
59.1
59
7
Q98.4
ICD-10 Finland
Klinefelter syndrome, unspecified
+∞
56.5
50
*
Z31.5
ICD-10 Finland
Genetic counselling
16.2
44.0
44
40
N46
ICD-10 Finland
Male infertility
20.7
40.7
34
22
Q98.5
ICD-10 Finland
Karyotype 47,XYY
+∞
22.6
21
*
E29.1
ICD-10 Finland
Testicular hypofunction
16.7
17.5
28
21
WVA30, ,
SPAT
7.5
16.2
26
42
Y28
ICPC
Limited function/disability (Y)
36.2
12.9
16
5
Q98.6
ICD-10 Finland
Male with structurally abnormal sex chromosome
+∞
11.6
11
*
KFB01
NOMESCO Finland
Microscope-assisted testicular biopsy for assisted reproduction treatments
119.4
10.6
11
*
L02BG04
ATC
letrozole; oral
32.8
9.6
12
*
Q98.8
ICD-10 Finland
Other specified sex chromosome abnormalities, male phenotype
+∞
9.5
9
*
B01AA03
ATC
warfarin; systemic
4.8
8.1
20
48
A46
ICD-10 Finland
Erysipelas
3.8
7.8
27
84
A55
ICPC
General and Unspecified, Local injection/infiltration
17.0
7.4
11
7
Q98.1
ICD-10 Finland
Klinefelter syndrome, male with more than two X chromosomes
+∞
7.4
7
*
EBA15
NOMESCO Finland
Extraction of multiple teeth
8.3
7.1
15
20
I87.2
ICD-10 Finland
Venous insufficiency (chronic)(peripheral)
8.3
7.1
15
20
T28
ICPC
Limited function/disability (T)
24.0
6.8
9
*
R03AK07
ATC
formoterol and budesonide; inhalant
3.1
6.8
35
140
R03BA02
ATC
budesonide; inhalant
3.2
6.7
31
116
R05DA20
ATC
opium alkaloids and derivatives - combinations
2.9
6.5
39
169
G25.0
ICD-10 Finland
Essential tremor
15.3
6.5
10
7
T50
ICPC
Metabolic, Medication/prescr/renewal
73.4
6.5
7
*
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
4.5
6.3
16
39
C07AA05
ATC
propranolol; systemic
2.9
6.2
34
140
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
86
239
8.92
34.10
6.5
2.6
13.27
15.86
nmol/l
2.78
81
232
47
71
9.88
32.28
3.0
1.6
14.10
3.67
u/l
6.41
36
52
28
42
8.25
18.70
2.9
1.6
25.70
6.89
iu/l
3.56
19
25
13
6
23.88
9.56
1.5
2.2
95.67
145.00
ng/l
—
6
6
46
203
2.98
7.56
2.2
2.6
0.94
0.93
mg/l
0.00
36
144
16
52
3.37
4.25
3.9
5.5
103.62
89.23
%
1.70
16
52
45
273
2.00
3.26
2.2
1.8
96.05
98.45
pmol/l
0.09
24
144
75
552
1.87
2.96
5.6
7.0
6.71
6.57
mmol/l
0.21
69
535
62
430
1.86
2.95
7.5
10.1
1.22
1.21
mmol/l
0.54
54
386
9
22
4.32
2.94
1.4
1.3
—
—
—
0
0
7
13
5.63
2.91
2.0
1.8
19.67
17.66
%
—
7
13
31
171
2.07
2.88
5.3
3.2
657.88
827.67
ng/l
0.18
25
131
65
468
1.79
2.66
5.5
7.3
11.51
15.18
umol/l
1.71
65
448
9
27
3.50
2.44
3.8
2.4
88.56
117.58
ug/l
—
9
27
80
622
1.76
2.44
10.1
12.2
3.94
3.95
e9/l
0.01
72
545
9
29
3.26
2.27
3.1
2.2
23.48
24.23
mmol/l
—
9
29
47
320
1.74
2.26
3.0
3.2
25.36
22.91
%
0.54
14
101
6
14
4.44
2.17
2.3
2.7
4.02
8.74
pmol/l
—
6
14
64
481
1.66
2.10
2.9
2.8
0.00
0.00
estimate
-0.00
13
72
6
15
4.14
2.06
4.0
3.6
0.00
0.00
g/l
—
6
15
20
109
1.99
1.90
2.1
1.8
—
—
—
0
0
25
148
1.86
1.88
3.2
3.4
1.19
0.32
e6/l
0.78
11
65
42
291
1.66
1.84
1.6
1.6
—
—
—
0
0
62
474
1.60
1.83
3.0
2.8
0.00
0.00
estimate
-0.00
15
86
62
475
1.59
1.81
3.0
2.8
0.00
0.00
estimate
-0.00
15
81
8
30
2.77
1.75
1.1
1.5
165.86
221.12
pmol/l
—
8
30
15
76
2.10
1.72
1.6
1.5
1163.40
1313.86
nmol/l
—
10
58
37
252
1.66
1.72
3.5
3.2
0.35
0.26
e6/l
0.14
26
181
27
169
1.76
1.70
3.6
2.9
34.20
1082.90
ng/l
1.07
20
117
25
154
1.77
1.66
3.2
3.3
0.71
0.40
e6/l
0.23
11
71
117
1065
2.15
1.65
18.2
12.2
17.89
24.23
mg/l
2.24
96
824
37
255
1.63
1.64
2.3
2.2
218.31
258.77
u/l
0.20
32
245
7
27
2.68
1.54
1.1
1.0
—
—
—
0
0
22
135
1.76
1.48
2.2
2.1
—
—
—
0
0
7
28
2.58
1.47
1.1
1.0
—
—
—
0
0
111
1002
1.81
1.47
5.6
4.5
2.87
2.91
mmol/l
0.18
111
958
18
108
1.78
1.30
2.2
1.8
—
—
—
0
0
5
18
2.85
1.29
1.0
1.1
—
—
—
0
0
25
166
1.63
1.27
2.6
2.0
2.63
3.16
mg/l
0.54
20
148
33
235
1.54
1.26
3.8
2.9
0.00
0.01
estimate
0.49
14
80
13
74
1.84
1.11
3.2
2.7
—
—
—
0
0
31
224
1.51
1.11
2.8
3.2
374.12
364.49
umol/l
0.21
25
202
45
352
1.43
1.08
2.9
2.4
0.00
0.00
estimate
-0.00
12
76
9
46
2.03
1.06
2.3
1.7
—
—
—
0
0
34
253
1.47
1.05
2.3
2.3
0.49
0.70
ug/l
1.41
25
111
101
915
1.49
1.03
18.3
10.9
94.63
95.83
ml/min/173m2
0.20
89
813
12
69
1.82
1.00
1.5
1.4
—
—
—
0
0
9
52
1.79
0.94
1.2
1.0
—
—
—
0
0
12
71
1.76
0.92
5.5
6.8
—
—
—
0
0
38
302
1.37
0.81
1.5
1.6
0.51
1.98
u/ml
—
9
69
83
912
0.74
0.80
3.3
3.5
—
—
—
0
0
26
195
1.42
0.77
3.3
2.8
—
—
—
0
0
41
333
1.34
0.76
2.9
2.9
—
—
estimate
—
0
0
17
117
1.52
0.76
1.6
1.3
0.80
4.63
u/ml
—
6
52
0
20
0.00
0.61
0.0
2.1
—
125.81
—
0
11
0
21
0.00
0.60
0.0
1.2
—
—
—
0
0
0
21
0.00
0.60
0.0
3.2
—
—
—
0
0
10
64
1.61
0.60
1.4
1.6
—
—
—
0
0
8
53
1.54
0.59
9.9
18.8
18.75
16.62
%
—
8
48
6
35
1.75
0.58
1.0
1.1
—
9.08
—
0
6
6
39
1.56
0.54
1.8
1.1
—
—
—
0
0
32
266
1.27
0.50
2.7
2.0
0.00
0.00
estimate
-0.00
13
70
12
85
1.45
0.49
1.3
1.3
304.39
343.00
u/ml
0.07
12
79
5
84
0.58
0.47
1.6
1.7
—
—
—
0
0
26
214
1.27
0.44
2.3
2.8
1.01
1.02
kg/l
1.82
15
136
24
196
1.28
0.43
2.2
2.3
—
—
—
0
0
5
32
1.58
0.42
2.0
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
2.1
—
—
—
0
0
0
16
0.00
0.41
0.0
2.1
—
—
—
0
0
0
16
0.00
0.41
0.0
2.1
—
—
—
0
0
16
124
1.33
0.41
9.8
12.6
24.91
25.36
mmol/l
0.32
16
124
0
18
0.00
0.40
0.0
2.3
—
—
—
0
0
5
80
0.61
0.36
1.0
1.1
0.87
0.96
g/l
—
5
80
5
80
0.61
0.36
1.0
1.1
1.27
1.44
g/l
—
5
80
25
212
1.22
0.33
2.2
2.4
—
—
—
0
0
10
75
1.36
0.31
2.4
2.4
—
—
—
0
0
8
66
1.23
0.27
2.0
1.7
—
—
—
0
0
5
40
1.26
0.22
2.6
3.4
4.56
4.55
pmol/l
—
5
34
0
11
0.00
0.21
0.0
1.6
—
977.09
—
0
11
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
6.9
—
1982.70
—
0
10
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.5
—
0.16
—
0
10
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
5.8
—
50.69
—
0
12
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
0
14
0.00
0.20
0.0
9.4
—
41.20
—
0
5
36
330
1.13
0.20
5.8
2.8
13.42
19.92
ng/l
0.93
20
194
8
71
1.14
0.16
2.4
2.3
—
—
—
0
0
6
75
0.79
0.16
1.0
1.0
—
—
—
0
0
6
75
0.79
0.16
12.7
12.4
0.98
1.74
%
—
6
75
12
136
0.87
0.11
1.2
1.8
4.03
3.85
mmol/l
—
7
101
6
72
0.83
0.08
12.7
12.8
0.25
0.70
%
—
6
72
9
85
1.06
0.07
10.1
17.8
139.11
128.08
g/l
—
9
80
12
109
1.11
0.06
6.3
8.0
23.58
24.18
mmol/l
0.44
12
109
15
139
1.09
0.05
9.5
11.3
106.20
104.55
mmol/l
1.15
15
139
13
137
0.94
0.01
6.2
7.4
5.99
5.91
kpa
0.11
13
137
11
104
1.06
0.01
7.5
15.3
14.65
12.58
kpa
0.44
11
97
11
104
1.06
0.01
7.5
15.3
5.10
5.27
kpa
0.20
11
97
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
5
0.00
0.00
0.0
7.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
45.48
—
0
5
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
0.39
—
0
7
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
10.50
—
0
8
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
90.10
—
0
7
0
6
0.00
-0.00
0.0
2.8
—
31.17
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
0.03
—
0
6
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
9.39
—
0
7
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
5
59
0.84
-0.00
5.4
8.4
1.24
1.63
%
—
5
59
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
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.9
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_MALE_PHENOT_NOT_ELSEW_CLASSIFIED – Other sex chromosome abnormalities, male phenotype, not elsewhere classified
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).