This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Klinefelter syndrome, karyotype 47 XXY
Q17_KLINEFELTER_SYNDROME
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. |
79 |
4. Check minimum number of eventsNone |
79 |
5. Include endpointsNone |
79 |
6. Filter based on genotype QC (FinnGen only) |
24 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Similar endpoints
↥List of similar endpoints to
Klinefelter syndrome, karyotype 47 XXY
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
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
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 | 24 | - | 21 |
| Unadjusted period prevalence (%) | 0.01 | - | 0.01 |
| Median age at first event (years) | 22.78 | - | 21.43 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
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
- 79
- Matched controls
- 790
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q98.0
ICD-10 Finland
Klinefelter syndrome karyotype 47,XXY
+∞
113.6
79
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
51.5
71.1
51
27
121
Kela drug reimbursment
Severe hypofunction of sexual glands
241.4
46.7
44
*
Q98.4
ICD-10 Finland
Klinefelter syndrome, unspecified
+∞
40.0
35
*
Z31.5
ICD-10 Finland
Genetic counselling
16.0
16.8
28
26
E29.1
ICD-10 Finland
Testicular hypofunction
27.1
16.2
22
11
N46
ICD-10 Finland
Male infertility
19.7
15.3
23
16
Y28
ICPC
Limited function/disability (Y)
51.1
11.3
13
*
WVA30, ,
SPAT
11.3
9.7
18
20
KFB01
NOMESCO Finland
Microscope-assisted testicular biopsy for assisted reproduction treatments
88.0
7.6
8
*
Q98.1
ICD-10 Finland
Klinefelter syndrome, male with more than two X chromosomes
+∞
7.4
7
*
A55
ICPC
General and Unspecified, Local injection/infiltration
33.4
7.3
9
*
L02BG04
ATC
letrozole; oral
29.3
6.4
8
*
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
35
145
3.54
6.89
2.7
3.3
26.11
22.70
%
—
8
45
58
388
2.86
4.20
4.1
2.9
13.56
14.89
pmol/l
5.72
58
367
24
111
2.67
3.59
2.0
2.2
0.40
0.64
ug/l
2.27
19
46
24
117
2.51
3.20
1.4
2.9
0.81
0.82
mg/l
0.01
17
84
45
585
0.46
2.73
3.5
3.4
—
—
—
0
0
11
41
2.95
2.32
5.6
6.8
—
—
—
0
0
69
577
2.55
2.08
4.2
3.4
1.16
1.28
mmol/l
1.88
69
546
22
123
2.09
2.07
1.5
1.6
86.14
101.60
pmol/l
0.86
14
63
30
203
1.77
1.57
2.4
2.5
63.80
73.67
nmol/l
0.97
30
194
11
55
2.16
1.35
1.5
1.3
20.07
20.10
nmol/l
0.00
11
48
5
18
2.89
1.30
1.0
1.7
132.98
232.58
pmol/l
—
5
18
70
631
1.96
1.14
10.4
10.6
15.89
24.13
mg/l
2.44
51
464
14
84
1.81
1.06
1.9
2.8
2.80
0.40
e6/l
—
5
44
9
49
1.94
1.03
1.9
2.9
—
—
—
0
0
10
55
1.94
0.97
1.2
2.9
2.44
2.38
mmol/l
—
10
48
14
87
1.74
0.95
1.8
2.8
0.42
0.33
e6/l
—
5
46
61
541
1.56
0.85
9.2
9.3
96.61
97.53
ml/min/173m2
0.13
50
441
24
179
1.49
0.80
2.4
2.9
—
—
—
0
0
34
277
1.40
0.70
3.7
7.2
10.85
16.07
umol/l
1.88
34
267
5
27
1.91
0.69
1.6
1.8
—
—
—
0
0
0
21
0.00
0.61
0.0
1.4
—
—
—
0
0
23
181
1.38
0.57
2.5
2.3
—
—
—
0
0
21
164
1.38
0.54
1.6
1.5
—
—
—
0
0
7
45
1.61
0.50
1.9
2.6
—
—
—
0
0
5
33
1.55
0.42
1.0
2.8
—
73.29
—
0
17
0
15
0.00
0.41
0.0
2.3
—
—
—
0
0
0
15
0.00
0.41
0.0
2.3
—
—
—
0
0
0
15
0.00
0.41
0.0
3.3
—
—
—
0
0
0
19
0.00
0.39
0.0
1.0
—
—
—
0
0
0
19
0.00
0.39
0.0
1.0
—
—
—
0
0
16
126
1.34
0.39
2.1
2.4
—
—
—
0
0
6
85
0.68
0.35
1.2
1.7
—
—
—
0
0
17
138
1.30
0.34
2.0
2.7
0.01
0.23
e6/l
—
10
104
8
61
1.35
0.29
1.6
1.7
—
—
—
0
0
8
62
1.32
0.29
1.6
1.7
—
—
—
0
0
0
11
0.00
0.21
0.0
4.2
—
27.07
—
0
11
0
10
0.00
0.21
0.0
2.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.6
—
—
—
0
0
0
10
0.00
0.21
0.0
2.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
193.64
—
0
7
6
47
1.30
0.21
1.2
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
2.2
—
—
—
0
0
0
13
0.00
0.21
0.0
2.3
—
—
—
0
0
0
13
0.00
0.21
0.0
2.2
—
—
—
0
0
22
195
1.18
0.20
23.4
8.2
1.24
1.18
inr
—
7
58
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
20
176
1.18
0.20
3.7
2.8
9.41
24.53
ng/l
1.71
11
95
16
139
1.19
0.18
2.1
2.5
—
—
—
0
0
6
78
0.75
0.16
4.3
3.7
6.00
9.31
umol/l
—
6
64
18
200
0.87
0.14
1.8
2.9
—
—
—
0
0
9
108
0.81
0.14
1.8
2.8
—
—
—
0
0
15
144
1.05
0.00
2.3
1.8
1.83
1.45
%
0.73
15
136
8
79
1.01
0.00
1.6
2.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
101.80
—
0
5
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
0.26
—
0
5
0
7
0.00
-0.00
0.0
6.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.6
—
101.20
—
0
5
5
58
0.85
-0.00
5.6
10.8
26.80
25.40
mmol/l
—
5
58
0
6
0.00
-0.00
0.0
7.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
6
64
0.93
-0.00
6.3
12.0
106.00
104.63
mmol/l
—
6
64
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
819.29
—
0
7
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
5.6
—
38.90
—
0
7
0
7
0.00
-0.00
0.0
6.3
—
9.43
—
0
7
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.8
—
—
—
0
0
6
67
0.89
-0.00
3.0
7.3
2.07
1.72
mmol/l
—
6
54
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.0
—
47.00
—
0
5
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.0
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_KLINEFELTER_SYNDROME – Klinefelter syndrome, karyotype 47 XXY
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).