Klinefelter's syndrome: A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.
Chromosomal abnormalities, not elsewhere classified
DOID EFO Endpoint Browser PheWeb
Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
793 |
4. Check minimum number of eventsNone |
793 |
5. Include endpoints
|
793 |
6. Filter based on genotype QC (FinnGen only) |
793 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
- Level in the ICD hierarchy
- 2
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q
- Name in latin
- Abnormitates chromosomales non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Chromosomal abnormalities, not elsewhere classified
based on the number of shared cases.
Similar with more cases:
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
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 | 793 | 459 | 334 |
| Unadjusted period prevalence (%) | 0.15 | 0.16 | 0.15 |
| Median age at first event (years) | 26.60 | 29.97 | 21.97 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
CodeWAS (R11)
↥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
- 673
- Matched controls
- 6711
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Z31.5
ICD-10 Finland
Genetic counselling
19.3
176.4
291
255
Q99.8
ICD-10 Finland
Other specified chromosome abnormalities
+∞
108.2
101
*
Q90.9
ICD-10 Finland
Down syndrome, unspecified
+∞
93.9
88
*
Q95.0
ICD-10 Finland
Balanced translocation and insertion in normal individual
+∞
90.6
85
*
Q90.0
ICD-10 Finland
Trisomy 21, meiotic nondisjunction
+∞
75.4
71
*
Q98.0
ICD-10 Finland
Klinefelter syndrome karyotype 47,XXY
+∞
72.1
68
*
Q98.4
ICD-10 Finland
Klinefelter syndrome, unspecified
+∞
43.2
41
*
Q93.8
ICD-10 Finland
Other deletions from the autosomes
+∞
42.1
40
*
121
Kela drug reimbursment
Severe hypofunction of sexual glands
19.4
38.6
59
33
O35.1
ICD-10 Finland
Maternal care for (suspected) chromosomal abnormality in fetus
13.8
36.0
63
50
F83
ICD-10 Finland
Mixed specific developmental disorders
8.0
31.1
73
101
Q93.5
ICD-10 Finland
Other deletions of part of a chromosome
+∞
30.4
29
*
Q90
ICD-10 Finland
Down syndrome
+∞
29.4
28
*
Q99.2
ICD-10 Finland
Fragile X chromosome
+∞
28.3
27
*
P85
ICPC
Mental retardation
18.0
28.3
44
26
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
13.6
26.5
46
36
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
6.9
25.7
66
104
7580A
ICD-9 Finland
Chromosomal anomalies, Down's syndrome
+∞
25.1
24
*
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
3.6
22.6
112
355
Q98.5
ICD-10 Finland
Karyotype 47,XYY
+∞
20.9
20
*
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
17.6
20.6
32
19
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.6
20.3
100
314
MAA10
NOMESCO Finland
Biopsy of chorionic villus
49.5
20.3
24
5
R62.0
ICD-10 Finland
Delayed milestone
5.1
19.9
65
139
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.8
19.8
143
587
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.8
19.0
86
252
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.2
18.2
237
1321
MAA00
NOMESCO Finland
Amniocentesis
7.1
17.5
43
64
N46
ICD-10 Finland
Male infertility
8.8
17.4
37
44
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
3.3
17.1
91
303
N96
ICD-10 Finland
Habitual aborter
16.1
15.8
25
16
Z82.7
ICD-10 Finland
Family history of congenital malformations, deformations and chromosomal abnormalities
19.7
15.6
23
12
Z36.0
ICD-10 Finland
Antenatal screening for chromosomal anomalies
3.7
15.3
69
201
XF400
NOMESCO Finland
ECG with 12 standard connections
2.5
15.1
135
618
SPAT1229
SPAT
Assessment of need for aid
5.2
14.7
46
94
75930
ICD-8 Finland
Congenital syndromes affecting multiple systems, Down's disease
+∞
14.6
14
*
Q95.1
ICD-10 Finland
Chromosome inversion in normal individual
+∞
14.6
14
*
Q96.3
ICD-10 Finland
Mosaicism, 45,X/46,XX or XY
+∞
14.6
14
*
WX408
NOMESCO Finland
General anesthesy, balanced
2.1
14.1
208
1198
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
3.4
13.8
69
219
H65.3
ICD-10 Finland
Chronic mucoid otitis media
3.3
13.7
71
231
Q98.8
ICD-10 Finland
Other specified sex chromosome abnormalities, male phenotype
+∞
13.6
13
*
MA4AT
NOMESCO Finland
Chorion biopsy with ultrasound guidance
16.6
13.5
21
13
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.4
13.2
126
593
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
2.8
13.1
88
342
R56.8
ICD-10 Finland
Other and unspecified convulsions
3.2
12.9
69
231
E29.1
ICD-10 Finland
Testicular hypofunction
10.3
12.5
24
24
Q97.0
ICD-10 Finland
Karyotype 47,XXX
+∞
12.5
12
*
Q90.1
ICD-10 Finland
Trisomy 21, mosaicism (mitotic nondisjunction)
+∞
12.5
12
*
Q99.9
ICD-10 Finland
Chromosomal abnormality, unspecified
+∞
12.5
12
*
F79.9
ICD-10 Finland
Unspecified mental retardation, without mention of impairment of behaviour
20.5
12.5
18
9
L28
ICPC
Limited function/disability (L)
3.0
12.2
71
252
N05AX08
ATC
risperidone; systemic
3.1
11.8
66
225
XA800
NOMESCO Finland
Neuropsychological investigation
3.0
11.6
67
236
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.2
11.5
131
669
H01AC01
ATC
somatropin; parenteral
4.6
11.5
39
88
Q96.8
ICD-10 Finland
Other variants of Turner syndrome
+∞
11.5
11
*
Q96.0
ICD-10 Finland
Karyotype 45,X
+∞
11.5
11
*
201
Kela drug reimbursment
Chronic cardiac insufficiency
5.8
11.3
31
55
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.0
11.2
170
980
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
20.4
11.2
16
8
Q21.21
ICD-10 Finland
Atrioventricular duct
44.0
10.9
13
*
F82
ICD-10 Finland
Specific developmental disorder of motor function
4.8
10.7
35
76
H50.30
ICD-10 Finland
Intermittent esotropy
6.5
10.7
27
43
G40.9
ICD-10 Finland
Epilepsy, unspecified
4.1
10.7
41
105
UDC00
NOMESCO Finland
Ear microscopy
2.9
10.6
65
237
N97.8
ICD-10 Finland
Female infertility of other origin
6.0
10.5
28
48
EBA15
NOMESCO Finland
Extraction of large number of teeth
4.1
10.5
40
102
Q95.8
ICD-10 Finland
Other balanced rearrangements and structural markers
+∞
10.4
10
*
Q91.0
ICD-10 Finland
Trisomy 18, meiotic nondisjunction
+∞
10.4
10
*
Q98.6
ICD-10 Finland
Male with structurally abnormal sex chromosome
+∞
10.4
10
*
Q21.10
ICD-10 Finland
Persistent ostium secundum
5.4
10.1
29
55
DFF20
NOMESCO Finland
Audiometry for children
4.6
10.1
34
77
H52.2
ICD-10 Finland
Astigmatism
4.0
9.9
39
102
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
3.1
9.9
53
178
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.1
9.9
121
633
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
3.0
9.8
57
202
113
Kela drug reimbursment
Anxiety disorders associated with mental retardation
20.3
9.8
14
7
Q21.11
ICD-10 Finland
Paten or persistent foramen ovale
7.7
9.5
21
28
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
2.3
9.4
88
408
Q92.3
ICD-10 Finland
Minor partial trisomy
+∞
9.4
9
*
Q97.2
ICD-10 Finland
Mosaicism, lines with various numbers of X chromosomes
+∞
9.4
9
*
Q90.2
ICD-10 Finland
Trisomy 21, translocation
+∞
9.4
9
*
J01DB01
ATC
cefalexin; oral
1.7
9.4
501
4198
G91.0
ICD-10 Finland
Communicating hydrocephalus
22.0
9.4
13
6
H03AA01
ATC
levothyroxine sodium; systemic
2.0
9.3
121
649
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.1
9.3
119
634
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.9
9.3
55
198
WX400
NOMESCO Finland
Inhalation anesthesy
2.7
9.2
63
248
Q25.0
ICD-10 Finland
Patent ductus arteriosus
6.0
9.1
24
41
ZXA10
NOMESCO Finland
Bilateral
2.1
9.0
115
613
101
Kela drug reimbursment
Anterior pituitary hypofunction
5.0
8.6
26
53
R1250
NOMESCO Finland
Evaluation of functional capability
5.5
8.5
24
45
F81.3
ICD-10 Finland
Mixed disorder of scholastic skills
6.8
8.4
20
30
O02.1
ICD-10 Finland
Missed abortion
2.9
8.4
52
191
N03AG01
ATC
valproic acid; systemic, rectal
2.6
8.4
60
242
KFB01
NOMESCO Finland
Microscope-assisted testicular biopsy for assisted reproduction treatments
+∞
8.3
8
*
Q95.2
ICD-10 Finland
Balanced autosomal rearrangement in abnormal individual
+∞
8.3
8
*
Q92.8
ICD-10 Finland
Other specified trisomies and partial trisomies of autosomes
+∞
8.3
8
*
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
9.6
8.3
16
17
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
5.0
8.3
25
51
E03.80
ICD-10 Finland
Hypothyroidism caused by autoimmune thyroiditis
4.3
8.2
29
70
J01CR02
ATC
amoxicillin and beta-lactamase inhibitor; systemic
1.6
8.0
364
2855
R4110
NOMESCO Finland
Physiotherapy
1.8
8.0
165
1043
C03CA01
ATC
furosemide; systemic
2.4
7.9
66
288
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
3.5
7.9
36
108
J01EE02
ATC
sulfadiazine and trimethoprim; systemic
1.7
7.9
212
1447
R1230
NOMESCO Finland
Neuropsychological evaluation of need and possibilities to rehabilitation
3.6
7.7
33
95
F79
ICD-10 Finland
Unspecified mental retardation
25.3
7.6
10
*
Z36.2
ICD-10 Finland
Other antenatal screening based on amniocentesis
25.3
7.6
10
*
O04.9
ICD-10 Finland
Medical abortion, complete or unspecified, without complication
2.3
7.5
71
330
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
2.1
7.4
88
452
F71
ICD-10 Finland
Moderate mental retardation
80.8
7.4
8
*
F70.1
ICD-10 Finland
Mild mental retardation, Significant impairment of behaviour requiring attention or treatment
13.5
7.4
12
9
Z50.5
ICD-10 Finland
Speech therapy
2.9
7.4
43
154
Z01.8
ICD-10 Finland
Other specified special examinations
1.8
7.3
130
778
Q92.6
ICD-10 Finland
Extra marker chromosomes
+∞
7.3
7
*
Q93.0
ICD-10 Finland
Whole chromosome monosomy, meiotic nondisjunction
+∞
7.3
7
*
Q91.2
ICD-10 Finland
Trisomy 18, translocation
+∞
7.3
7
*
Y28
ICPC
Limited function/disability (Y)
15.9
7.2
11
7
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
6.1
7.1
18
30
F79.1
ICD-10 Finland
Unspecified mental retardation, significant impairment of behaviour requiring attention or treatment
12.2
7.1
12
10
WX610
NOMESCO Finland
Patient controlled analgesia
8.9
7.1
14
16
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
7.1
7.0
16
23
N06DA02
ATC
donepezil; oral
7.6
6.9
15
20
RS222
NOMESCO Finland
NA
4.9
6.9
21
44
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
1.9
6.8
99
554
R2110
NOMESCO Finland
Giving the first information
2.5
6.8
51
213
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
2.6
6.8
47
187
WZC00
NOMESCO Finland
Planning of intervention or health care consultation
1.6
6.7
214
1516
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.2
6.7
66
313
SPAT1216
SPAT
Assessment of functional ability
2.3
6.7
61
282
R1260
NOMESCO Finland
Evaluation of communicative skills
5.2
6.7
19
37
F80.9
ICD-10 Finland
Developmental disorder of speech and language, unspecified
4.3
6.7
23
55
A28
ICPC
Limited function/disability NOS
2.4
6.6
55
242
Z35.8
ICD-10 Finland
Supervision of other high-risk pregnancies
2.1
6.6
72
361
G02CB01
ATC
bromocriptine; systemic
4.9
6.6
20
42
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
1.8
6.6
130
806
P05.1
ICD-10 Finland
Small for gestational age
6.9
6.5
15
22
DFF00
NOMESCO Finland
Pure tone audiometry
2.4
6.5
52
226
G30.0
ICD-10 Finland
Alzheimer disease with early onset
70.3
6.4
7
*
N06DX01
ATC
memantine; oral
7.5
6.4
14
19
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
2.2
6.4
64
307
SAA03
NOMESCO Finland
Extended examination of mouth
1.5
6.3
300
2328
FM2CE
NOMESCO Finland
NA
2.6
6.3
44
175
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
2.2
6.3
64
311
H72.0
ICD-10 Finland
Central perforation of tympanic membrane
4.6
6.3
20
44
SPAT1231
SPAT
Assessment of adjustments needed in living environment
9.4
6.3
12
13
G91.1
ICD-10 Finland
Obstructive hydrocephalus
9.4
6.3
12
13
K03.66
ICD-10 Finland
Tooth plaque
2.0
6.3
76
396
XF600
NOMESCO Finland
Bloodpressure measurement
2.2
6.3
65
316
N05CD08
ATC
midazolam; nasal, systemic
3.5
6.3
27
79
Q91.1
ICD-10 Finland
Trisomy 18, mosaicism (mitotic nondisjunction)
+∞
6.3
6
*
7456C
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[ASD CANALIS ATRIOVENTRICULARIS COMMUNIS]
+∞
6.3
6
*
Q96.9
ICD-10 Finland
Turner syndrome, unspecified
+∞
6.3
6
*
Q98.1
ICD-10 Finland
Klinefelter syndrome, male with more than two X chromosomes
+∞
6.3
6
*
Q92.5
ICD-10 Finland
Duplications with other complex rearrangements
+∞
6.3
6
*
Q97.8
ICD-10 Finland
Other specified sex chromosome abnormalities, female phenotype
+∞
6.3
6
*
R4120
NOMESCO Finland
Occupational therapy
2.3
6.2
53
236
F71.1
ICD-10 Finland
Moderate mental retardation, significant impairment of behaviour requiring attention or treatment
26.9
6.2
8
*
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
2.3
6.2
55
249
H65.1
ICD-10 Finland
Other acute nonsuppurative otitis media
2.7
6.2
38
143
H52.0
ICD-10 Finland
Hypermetropia
3.3
6.2
29
91
R50.9
ICD-10 Finland
Fever, unspecified
1.8
6.2
119
733
H66.0
ICD-10 Finland
Acute suppurative otitis media
1.7
6.2
128
804
AAF05
NOMESCO Finland
Ventriculoperitoneal shunt
7.8
6.1
13
17
TDW99
NOMESCO Finland
Other minor procedure in surgery of ear, nose and larynx
4.1
6.1
22
55
N05BA09
ATC
clobazam; oral
4.7
6.1
19
41
M41.4
ICD-10 Finland
Neuromuscular scoliosis
12.6
6.1
10
8
TPH04
NOMESCO Finland
Cathetrisation of vein
1.8
6.1
115
703
SPAT1033
SPAT
Irrigation or wax removal of outer auditory canal
2.1
6.1
66
329
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
8.7
6.1
12
14
A41.9
ICD-10 Finland
Sepsis, unspecified
3.5
6.1
26
76
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
3.6
6.0
25
71
O35.9
ICD-10 Finland
Maternal care for (suspected) fetal abnormality and damage, unspecified
6.1
6.0
15
25
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
109
407
2.94
21.50
2.8
1.8
9.2
7.5
u/l
0.79
83
293
61
192
3.35
15.98
1.5
1.4
4.9
3.6
ug/l
0.24
51
175
74
277
2.84
14.41
3.1
4.9
116.6
179.2
ng/l
0.99
68
245
114
530
2.34
14.20
5.0
2.2
11.8
12.6
nmol/l
0.52
103
459
155
825
2.09
13.80
4.3
4.4
755.9
756.1
ng/l
0.00
133
673
112
531
2.29
13.30
2.4
1.7
17.5
18.4
iu/l
0.14
91
409
166
962
1.91
11.45
6.8
10.1
1.2
1.2
mmol/l
0.81
159
920
347
2500
1.68
11.32
11.6
10.6
1.2
1.2
mmol/l
1.09
325
2349
17
26
6.64
10.63
1.0
1.0
—
—
—
0
0
40
127
3.25
10.36
4.3
5.7
423.0
396.4
umol/l
0.50
35
116
333
2420
1.64
10.20
3.1
2.9
72.0
71.6
nmol/l
0.08
318
2290
583
4883
1.72
10.12
4.9
3.8
14.6
14.4
pmol/l
1.04
553
4575
145
840
1.88
9.91
3.5
3.3
470.5
846.0
ng/l
0.90
96
509
362
2725
1.60
9.37
10.8
10.1
1.2
1.2
mmol/l
0.52
313
2426
12
5
24.25
8.91
1.2
1.0
—
—
—
0
0
287
2065
1.61
8.84
4.9
6.8
36.3
37.2
g/l
2.34
272
1951
107
584
1.96
8.69
1.2
1.3
139.9
151.1
iu/ml
0.09
39
229
415
3301
1.53
7.95
7.8
6.6
6.3
6.3
mmol/l
0.10
389
3046
642
5661
1.69
7.67
5.6
4.3
2.0
2.0
mu/l
0.01
613
5356
341
2631
1.51
7.35
6.3
7.1
16.3
16.0
umol/l
0.06
321
2474
493
4107
1.52
7.35
7.1
6.7
95.8
92.8
u/l
0.44
475
3887
40
162
2.54
6.74
2.8
1.8
186.2
215.5
pmol/l
0.79
40
153
42
177
2.44
6.52
2.1
1.4
0.3
0.4
nmol/l
0.59
37
143
51
237
2.22
6.35
2.4
1.8
34.5
36.6
nmol/l
0.34
51
231
137
888
1.65
6.19
4.6
8.5
0.8
0.8
mmol/l
0.13
128
844
111
696
1.69
5.68
3.0
2.9
22.3
23.8
%
0.71
96
625
78
454
1.79
5.19
15.2
11.6
0.6
0.7
mmol/l
0.08
59
354
77
453
1.77
4.95
15.3
11.6
13.0
13.9
kpa
0.66
72
434
125
836
1.58
4.94
3.0
2.7
13.9
14.6
umol/l
0.48
115
785
77
454
1.77
4.91
15.3
11.6
5.2
5.2
kpa
0.04
72
434
179
1301
1.48
4.82
2.3
2.2
259.9
289.8
u/l
0.13
172
1250
666
6111
1.55
4.78
16.4
12.2
4.0
3.9
mmol/l
2.10
645
5933
664
6095
1.53
4.69
16.6
12.2
139.4
139.5
mmol/l
0.69
645
5938
63
356
1.83
4.63
13.0
11.5
128.7
123.9
g/l
1.00
58
346
90
565
1.66
4.59
1.5
1.6
1199.8
1150.3
nmol/l
0.13
73
453
217
1655
1.42
4.50
3.4
3.5
0.3
0.3
e6/l
0.55
173
1223
39
745
0.50
4.49
1.6
1.5
—
—
—
0
0
257
2020
1.40
4.48
3.9
3.7
—
—
—
0
0
90
571
1.65
4.41
2.0
1.9
—
—
—
0
0
267
2122
1.38
4.33
1.7
1.5
3.9
2.7
u/ml
0.31
66
468
90
577
1.63
4.23
2.1
2.0
—
—
—
0
0
447
3870
1.35
4.12
8.8
10.8
3.8
3.8
e9/l
0.02
389
3290
179
1339
1.43
4.09
1.8
1.8
1.5
1.4
mmol/l
0.40
151
1195
111
760
1.53
3.95
3.0
2.7
2.5
2.5
g/l
0.08
105
712
175
1315
1.42
3.89
1.9
3.0
1.0
1.3
mg/l
0.49
137
974
125
881
1.49
3.88
5.9
10.0
1.3
1.2
mmol/l
0.18
100
691
161
1194
1.43
3.84
2.7
2.9
6.4
7.0
e6/l
0.16
151
1049
23
95
2.46
3.81
2.3
3.1
18.9
17.2
%
1.18
13
51
697
6532
1.53
3.76
10.3
9.0
29.7
27.6
u/l
1.13
683
6354
117
821
1.49
3.71
3.2
3.5
1.1
1.9
ug/l
1.51
103
749
110
766
1.50
3.62
2.1
2.0
—
—
—
0
0
562
5088
1.35
3.56
3.6
3.2
5.8
5.6
mmol/l
1.16
519
4751
137
1003
1.44
3.50
4.8
4.1
14.1
27.2
mg/mmol
0.37
104
694
76
493
1.59
3.43
1.1
1.1
—
2.8
—
0
5
39
209
1.91
3.43
9.0
9.5
24.3
24.4
mmol/l
0.07
34
196
78
510
1.58
3.41
15.0
13.7
1.3
1.3
mmol/l
0.13
73
476
34
174
1.99
3.41
1.4
1.4
—
—
—
0
0
34
174
1.99
3.41
1.4
1.4
—
—
—
0
0
28
133
2.14
3.41
2.7
3.9
13.1
9.4
%
0.46
21
114
692
6503
1.48
3.38
15.3
11.3
23.0
21.0
mg/l
0.83
538
4828
27
127
2.16
3.37
2.7
4.0
—
—
—
0
0
120
1614
0.70
3.33
2.2
2.3
—
—
—
0
0
204
1611
1.35
3.32
3.0
3.0
2.4
2.4
mmol/l
0.97
188
1472
519
4668
1.32
3.30
5.0
4.1
37.8
37.8
mmol/mol
0.03
486
4448
105
740
1.48
3.26
4.8
9.9
23.8
23.6
mmol/l
0.32
100
714
116
834
1.45
3.26
10.8
9.7
1.5
1.0
mmol/l
1.08
97
602
251
2049
1.32
3.26
3.7
4.1
34.6
32.8
u/l
0.20
242
1967
29
144
2.05
3.17
1.7
1.5
—
—
—
0
0
55
336
1.68
3.16
2.7
7.1
3.5
3.0
g/l
1.68
55
324
64
407
1.62
3.15
3.0
2.6
—
—
—
0
0
196
1552
1.34
3.12
2.8
2.9
53.1
55.6
u/l
0.31
185
1465
81
548
1.53
3.07
3.4
2.4
11471.2
3817.8
u/l
0.79
33
228
65
419
1.60
3.04
3.0
3.5
4.8
4.8
pmol/l
0.09
57
371
26
128
2.06
2.92
1.5
1.2
3.2
4.5
u/ml
0.24
13
46
120
890
1.41
2.85
1.6
1.4
18.4
20.3
nmol/l
0.97
108
781
43
253
1.73
2.85
1.7
1.6
—
—
—
0
0
189
1512
1.32
2.78
3.7
3.9
8.1
8.3
mmol/l
0.18
174
1358
200
1615
1.31
2.75
1.9
1.7
100.3
97.3
pmol/l
0.30
94
878
112
1476
0.72
2.73
2.2
2.2
—
—
—
0
0
48
298
1.65
2.63
1.7
1.4
—
—
—
0
0
29
155
1.90
2.62
2.2
2.3
1.6
1.3
g/l
0.56
23
130
131
1002
1.36
2.59
3.2
3.2
0.8
0.7
e6/l
0.28
77
542
640
6011
1.32
2.47
18.9
14.7
13.6
13.3
%
5.70
632
5930
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
25
130
1.95
2.46
6.7
16.2
0.3
0.3
u/ml
0.28
12
76
307
2649
1.25
2.45
3.8
4.3
—
—
—
0
0
12
45
2.68
2.44
3.7
2.8
744.5
1072.9
u/ml
0.58
12
45
13
51
2.57
2.44
2.2
2.6
21.0
22.3
mg/l
—
8
43
13
51
2.57
2.44
2.2
2.5
—
1.2
—
0
5
13
51
2.57
2.44
2.2
2.6
31.3
28.6
mg/l
—
8
44
22
110
2.02
2.41
1.8
2.5
—
—
—
0
0
127
981
1.35
2.36
3.3
3.3
4.4
2.5
e6/l
0.81
73
522
175
1416
1.30
2.35
2.5
2.7
—
—
—
0
0
147
1164
1.32
2.31
2.8
3.2
3748.0
3689.9
umol/l
0.01
131
1065
24
126
1.93
2.31
1.5
1.2
3.9
5.6
u/ml
0.38
14
53
24
126
1.93
2.31
3.7
4.0
54.5
54.9
%
0.05
24
126
23
122
1.91
2.16
3.3
3.6
3.4
3.9
e9/l
0.76
23
122
11
43
2.57
2.09
1.0
1.0
—
—
—
0
0
23
124
1.88
2.07
1.2
1.1
—
—
—
0
0
41
265
1.57
1.97
1.6
1.5
—
—
—
0
0
24
134
1.81
1.95
2.6
3.7
0.5
0.2
e9/l
0.50
18
100
89
671
1.36
1.95
2.5
2.4
2.4
2.4
mmol/l
1.61
82
575
6
16
3.76
1.93
1.8
1.3
14.7
16.4
u/l
—
6
16
6
16
3.76
1.93
2.5
2.4
—
—
—
0
0
96
738
1.34
1.86
11.1
9.3
24.5
24.1
mmol/l
0.98
96
732
24
137
1.77
1.83
2.5
3.7
385.2
565.3
e6/l
1.86
18
101
6
17
3.54
1.83
3.2
2.9
—
—
—
0
0
6
17
3.54
1.83
2.2
2.1
—
—
—
0
0
10
40
2.51
1.83
1.4
1.1
90.2
90.0
%
—
5
21
10
41
2.45
1.75
1.2
1.1
100.2
91.2
%
—
5
22
12
54
2.23
1.73
1.3
1.4
1.8
1.4
nmol/l
0.64
12
47
8
31
2.59
1.65
1.3
1.1
—
88.4
—
0
7
(3002348) Coagulation factor XII activity actual/normal in Platelet poor plasma by Coagulation assay
8
31
2.59
1.65
1.3
1.1
—
69.9
—
0
7
7
25
2.81
1.64
2.4
2.6
25.7
18.3
umol/l
—
7
25
60
438
1.40
1.63
5.9
5.6
—
—
—
0
0
5
14
3.58
1.61
1.0
2.1
—
—
—
0
0
170
1441
1.22
1.53
3.0
2.7
2.8
2.7
mg/l
0.20
149
1276
101
806
1.29
1.53
1.5
1.5
496.1
37466372.5
pmol/l
1.31
84
734
49
351
1.42
1.49
1.5
1.8
—
—
—
0
0
15
79
1.91
1.49
1.2
1.5
10.6
11.3
mmol/l
—
5
12
416
3829
1.18
1.48
4.2
3.8
471.7
50.7
e6/l
—
9
40
41
285
1.46
1.46
1.7
1.4
—
—
—
0
0
9
39
2.32
1.43
1.0
1.1
1284.1
1465.3
miu/ml
—
9
39
19
110
1.74
1.42
2.7
5.1
5.3
4.9
kpa
1.92
19
110
576
6009
0.84
1.40
3.7
3.9
—
—
—
0
0
17
96
1.78
1.38
2.5
1.6
3.8
4.6
umol/l
0.45
17
87
29
190
1.54
1.37
1.5
3.7
481.3
337.5
e6/l
0.13
21
141
29
190
1.54
1.37
1.4
3.7
4.2
10.9
e6/l
0.70
20
135
14
75
1.88
1.34
1.4
1.2
—
—
—
0
0
169
1452
1.20
1.33
3.1
2.7
31.3
37.8
ng/l
0.16
95
687
42
300
1.42
1.32
1.8
1.7
—
—
—
0
0
47
345
1.38
1.28
1.6
1.6
—
—
—
0
0
9
44
2.05
1.26
3.4
1.9
128.7
124.0
%
—
9
44
760
7445
1.45
1.24
22.3
16.8
135.7
135.9
g/l
0.12
754
7373
14
79
1.78
1.16
2.2
4.3
24.1
26.1
umol/l
0.36
14
79
12
65
1.85
1.13
1.3
1.4
48.0
36.2
nmol/l
0.72
12
52
17
104
1.64
1.09
4.0
3.8
26.9
21.8
mg/l
0.36
11
73
5
21
2.38
1.09
1.6
1.8
—
—
—
0
0
14
81
1.74
1.08
1.3
1.4
—
—
—
0
0
44
331
1.34
1.06
2.8
2.7
70.6
77.3
ml/min/173m2
0.32
20
130
13
75
1.74
1.02
2.0
2.0
—
—
—
0
0
78
639
1.24
1.00
2.8
3.3
27.1
22.0
%
1.41
21
228
12
68
1.77
1.00
1.3
1.2
98.2
78.9
%
0.84
12
68
12
68
1.77
1.00
1.2
1.2
—
—
—
0
0
169
1492
1.16
0.98
4.6
3.5
0.0
0.0
estimate
1.34
65
548
5
23
2.18
0.98
1.6
1.7
—
—
—
0
0
562
5378
1.14
0.97
3.8
3.4
4.7
4.7
mmol/l
0.28
531
5126
211
2321
0.87
0.94
1.8
1.8
—
—
—
0
0
564
5404
1.14
0.94
4.0
3.6
2.9
2.9
mmol/l
0.30
530
5110
89
747
1.21
0.92
3.7
5.3
5.5
6.6
umol/l
0.64
72
626
31
413
0.74
0.89
1.7
1.5
—
—
—
0
0
13
79
1.65
0.87
1.4
1.5
—
—
—
0
0
455
4315
1.12
0.86
4.5
4.0
9.8
8.4
mm/h
1.77
432
4048
29
384
0.74
0.81
1.5
1.4
—
—
—
0
0
29
384
0.74
0.81
1.5
1.4
—
—
—
0
0
12
73
1.65
0.81
1.7
1.9
—
—
—
0
0
14
89
1.58
0.81
1.8
1.8
—
—
—
0
0
8
47
1.70
0.80
1.0
1.2
—
—
—
0
0
29
383
0.75
0.80
1.5
1.4
—
—
—
0
0
29
382
0.75
0.79
1.5
1.4
—
—
—
0
0
15
98
1.54
0.78
1.5
1.7
7.5
7.6
mmol/l
—
7
59
12
74
1.63
0.77
2.4
1.9
—
—
—
0
0
0
28
0.00
0.76
0.0
1.0
—
80.2
—
0
20
0
28
0.00
0.76
0.0
1.0
—
19.4
—
0
19
516
4947
1.12
0.76
12.3
8.4
96.0
96.1
ml/min/173m2
0.03
412
3840
9
53
1.70
0.75
1.0
1.1
—
—
—
0
0
9
53
1.70
0.75
1.6
1.1
—
—
—
0
0
10
60
1.67
0.71
1.0
1.3
—
—
—
0
0
7
40
1.75
0.71
2.0
2.0
—
—
—
0
0
5
26
1.92
0.70
1.6
1.7
—
—
—
0
0
34
265
1.29
0.70
1.5
1.4
—
—
—
0
0
7
116
0.60
0.68
2.3
1.8
—
—
—
0
0
554
5348
1.11
0.67
3.7
3.3
1.4
1.4
mmol/l
2.55
521
5076
16
224
0.71
0.65
1.1
1.1
6.6
0.6
u/ml
—
5
99
7
44
1.59
0.65
1.1
1.2
—
—
—
0
0
22
163
1.36
0.64
1.4
1.1
92.8
133.5
iu/ml
—
5
54
24
181
1.33
0.63
1.3
1.3
348.1
328.2
ug/g
0.27
15
102
26
334
0.77
0.62
1.2
1.2
—
—
—
0
0
39
475
0.81
0.61
1.4
1.3
—
—
—
0
0
14
96
1.46
0.61
1.4
1.6
—
—
—
0
0
15
208
0.71
0.59
1.1
1.1
—
—
—
0
0
406
4220
0.92
0.59
3.3
3.5
48.8
36.3
u/l
2.62
390
4056
312
2946
1.09
0.58
5.4
4.7
0.0
0.0
estimate
0.50
64
566
8
53
1.51
0.58
5.9
5.2
26.1
20.5
ug/l
—
8
53
55
465
1.19
0.58
3.7
3.1
31.6
31.6
%
0.01
38
343
17
123
1.39
0.57
1.8
1.7
—
—
—
0
0
6
36
1.67
0.56
1.8
3.1
—
—
—
0
0
12
81
1.48
0.56
2.3
1.4
—
—
—
0
0
24
306
0.78
0.56
1.4
1.4
—
—
—
0
0
11
73
1.51
0.56
1.3
2.5
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
10
65
1.54
0.55
1.1
1.3
—
—
—
0
0
27
338
0.79
0.55
1.0
1.3
59.9
248.6
miu/ml
—
6
171
29
359
0.80
0.54
1.1
1.2
4.1
3.6
u/ml
—
10
124
25
315
0.78
0.54
1.4
1.3
—
—
—
0
0
331
3145
1.09
0.53
3.6
3.2
84.7
77.8
ug/l
0.35
311
2987
313
2969
1.08
0.52
4.0
3.3
0.0
0.0
estimate
0.50
64
542
20
152
1.32
0.51
1.2
1.6
—
—
—
0
0
6
40
1.50
0.51
1.3
1.7
—
1021375.0
—
0
6
9
64
1.41
0.51
1.0
1.1
—
—
—
0
0
68
770
0.87
0.49
1.9
1.8
—
—
—
0
0
27
216
1.26
0.49
1.8
2.3
—
—
—
0
0
310
2948
1.08
0.48
4.0
3.3
0.0
0.0
estimate
0.00
59
540
63
551
1.15
0.47
3.4
2.5
28.7
119.6
u/l
0.53
52
465
7
48
1.46
0.46
2.0
1.2
—
—
—
0
0
233
2193
1.08
0.46
4.3
3.2
—
—
—
0
0
53
606
0.86
0.45
1.0
1.1
—
—
—
0
0
24
192
1.25
0.44
1.8
2.0
2.4
6.1
iu/l
—
8
73
12
86
1.40
0.44
2.7
2.2
102.3
109.5
ug/min
—
7
52
14
104
1.35
0.42
14.3
4.5
4.0
3.8
mmol/l
0.75
14
93
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
8
61
1.31
0.39
1.0
1.4
325.3
567.0
pmol/l
—
8
44
5
36
1.39
0.38
3.0
3.8
—
—
—
0
0
9
67
1.34
0.38
1.1
1.1
—
—
—
0
0
9
67
1.34
0.38
1.1
1.1
—
—
—
0
0
9
68
1.32
0.37
1.1
1.1
—
—
—
0
0
9
68
1.32
0.37
1.1
1.1
—
—
—
0
0
9
68
1.32
0.37
1.1
1.1
—
—
—
0
0
37
427
0.86
0.37
1.3
1.2
—
23.6
—
0
17
9
69
1.30
0.37
1.2
1.2
—
—
—
0
0
13
168
0.77
0.36
1.5
1.5
—
—
—
0
0
18
143
1.26
0.36
1.4
1.9
—
—
—
0
0
22
180
1.23
0.35
1.1
1.2
—
—
—
0
0
12
156
0.76
0.35
2.5
2.1
—
—
—
0
0
6
44
1.36
0.34
1.2
1.6
—
—
—
0
0
6
44
1.36
0.34
1.7
1.6
—
—
—
0
0
6
44
1.36
0.34
1.3
1.7
—
—
—
0
0
11
83
1.33
0.31
1.1
1.0
—
—
—
0
0
11
142
0.77
0.31
2.3
1.9
—
—
—
0
0
18
218
0.82
0.31
1.2
1.1
—
—
—
0
0
31
356
0.86
0.30
2.0
1.8
—
—
—
0
0
524
5125
1.06
0.30
3.4
3.1
1.3
1.2
mmol/l
0.87
491
4876
30
259
1.16
0.29
3.3
4.6
2.3
23.6
ug/l
0.64
20
198
10
76
1.32
0.27
1.1
1.1
—
—
—
0
0
17
204
0.83
0.27
3.1
2.1
—
—
—
0
0
12
150
0.79
0.27
1.2
1.2
—
—
—
0
0
25
215
1.16
0.26
1.8
2.1
—
—
—
0
0
24
207
1.16
0.24
1.4
1.7
—
266.7
—
0
6
87
926
0.93
0.24
1.9
1.8
1.4
1.4
%
0.21
80
863
11
87
1.26
0.24
1.4
1.8
—
—
—
0
0
667
6586
1.06
0.23
18.3
13.5
39.5
40.1
%
1.17
551
5678
22
253
0.86
0.23
1.3
1.1
4.9
7.1
u/ml
0.22
11
138
91
964
0.93
0.23
2.0
2.0
—
—
—
0
0
18
153
1.18
0.22
2.1
3.1
—
—
—
0
0
5
42
1.19
0.21
1.2
1.8
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
122
1160
1.06
0.20
1.6
1.5
—
—
—
0
0
0
14
0.00
0.20
0.0
3.1
—
—
—
0
0
16
136
1.18
0.19
1.3
2.0
—
—
—
0
0
77
723
1.07
0.19
1.8
1.5
—
—
—
0
0
19
217
0.87
0.19
1.2
1.1
—
—
—
0
0
6
52
1.15
0.19
1.0
1.1
—
—
—
0
0
36
393
0.91
0.18
1.2
1.2
8.8
2.3
u/ml
0.72
19
240
98
931
1.06
0.18
1.4
1.2
2.7
7.2
u/ml
2.05
38
366
7
60
1.16
0.17
1.1
1.4
—
—
—
0
0
20
176
1.14
0.17
1.1
1.1
4.9
4.0
u/ml
0.11
11
72
9
80
1.12
0.15
1.9
1.4
—
—
—
0
0
9
81
1.11
0.15
1.1
1.1
—
—
—
0
0
51
478
1.07
0.14
1.9
2.3
0.5
0.6
ug/l
0.80
35
253
134
1292
1.04
0.14
5.0
3.3
1.0
1.0
kg/l
0.39
16
209
13
112
1.16
0.14
1.5
1.3
—
—
—
0
0
8
99
0.80
0.13
1.6
1.6
—
—
—
0
0
16
142
1.13
0.12
1.3
1.3
57.5
59.4
pmol/l
0.06
16
137
18
162
1.11
0.11
1.6
2.0
—
—
—
0
0
5
47
1.06
0.09
1.2
1.2
78.2
180.1
u/l
—
5
32
24
223
1.08
0.08
1.8
1.5
—
—
—
0
0
11
97
1.13
0.08
1.2
1.1
—
—
—
0
0
6
57
1.05
0.08
1.2
1.9
—
—
—
0
0
29
307
0.94
0.08
1.3
1.8
—
—
—
0
0
5
60
0.83
0.08
1.2
4.9
—
—
—
0
0
5
60
0.83
0.08
1.2
4.9
—
—
—
0
0
22
235
0.93
0.08
1.1
1.1
5.1
6.7
u/ml
0.27
11
129
8
91
0.88
0.06
1.3
2.1
—
—
—
0
0
35
365
0.95
0.06
1.5
2.0
—
—
—
0
0
9
102
0.88
0.06
1.0
2.1
—
1546.7
—
0
6
29
303
0.95
0.05
1.3
1.9
304.2
197.5
u/ml
0.55
13
153
10
91
1.10
0.04
1.0
1.2
—
—
—
0
0
27
259
1.04
0.03
1.9
2.0
104.0
96.6
u/ml
—
7
33
17
162
1.05
0.02
1.1
1.1
—
—
—
0
0
48
485
0.99
0.00
1.5
1.4
—
—
—
0
0
12
115
1.04
0.00
1.3
1.7
—
—
—
0
0
16
159
1.00
0.00
1.1
1.4
4.5
4.7
u/ml
0.02
11
102
99
986
1.00
0.00
1.4
1.2
12.3
26.9
iu/ml
3.31
31
291
16
161
0.99
0.00
2.7
1.8
—
—
—
0
0
38
380
1.00
0.00
1.8
1.7
—
—
—
0
0
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
9
92
0.98
0.00
1.4
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
7
75
0.93
0.00
1.0
1.0
171.3
162.4
g/l
—
7
75
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
6
60
1.00
0.00
1.5
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
243.2
—
0
6
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
6
59
1.01
0.00
1.5
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
6
60
1.00
0.00
1.5
1.4
—
—
—
0
0
9
89
1.01
0.00
1.2
1.5
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
7
0.00
0.00
0.0
2.0
—
1.1
—
0
7
6
59
1.01
0.00
1.5
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
0.00
0.0
4.1
—
—
—
0
0
6
60
1.00
0.00
1.5
1.4
—
—
—
0
0
7
70
1.00
0.00
1.0
1.1
—
—
—
0
0
6
60
1.00
0.00
1.5
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED – Chromosomal abnormalities, not elsewhere classified
GWS hits: 1
This endpoint is excluded (different definition than used in FinnGen).