≡ Risteys
FG R12 + FR

Documentation Changelog GitHub Contact & Feedback

Congenital ichthyosis

DOID EFO Endpoint Browser PheWeb

Q17_CONGEN_ICHTHYOSIS

Endpoint definition

↥

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — Q80
  • Cause of death: ICD-10 — Q80

2 out of 7 registries used, show all original rules.

111

4. Check minimum number of events

None

111

5. Include endpoints

None

111

6. Filter based on genotype QC (FinnGen only)

111

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q8
Name in latin
Ichthyosis congenita

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1177 430 744
Only index persons 1017 379 638
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.02
Only index persons 0.02 0.01 0.02
Median age at first event (years)
Whole population 19.16 24.30 16.03
Only index persons 20.43 25.76 17.26

-FinnGen-

Key figures

All Female Male
Number of individuals 111 56 55
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 35.28 38.68 31.82

-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 (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
99
Matched controls
987
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q80.0
ICD-10 Finland
Ichthyosis vulgaris
+∞
42.8
38
*
Q80.9
ICD-10 Finland
Congenital ichthyosis, unspecified
+∞
39.2
35
*
D02AE01
ATC
carbamide; topical
20.4
29.1
46
40
Q80.8
ICD-10 Finland
Other congenital ichthyosis
+∞
26.2
24
*
E0000UV
ATC
NA
8.4
20.5
76
279
Q80.1
ICD-10 Finland
X-linked ichthyosis
+∞
19.4
18
*
E000006
ATC
NA
16.1
18.7
31
27
Q80.2
ICD-10 Finland
Lamellar ichthyosis
+∞
18.3
17
*
E000001
ATC
NA
6.3
15.5
52
147
75720
ICD-8 Finland
Congenital anomalies of skin, hair and nails, Iethyosis congenita
+∞
12.8
12
*
E000003
ATC
NA
12.1
12.6
23
24
D02AX
ATC
Other emollients and protectives
20.2
11.7
17
10
E000002
ATC
NA
6.0
10.7
32
73
D05BB02
ATC
acitretin; oral
19.3
10.2
15
9
134
Kela drug reimbursment
General erythroderma
61.1
9.9
11
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
6.1
8.6
24
49
G80.2
ICD-10 Finland
Spastic hemiplegic cerebral palsy
+∞
8.4
8
*
Q80.3
ICD-10 Finland
Congenital bullous ichthyosiform erythroderma
+∞
8.4
8
*
E000007
ATC
NA
8.4
7.5
16
22
D07AB08
ATC
desonide; topical
5.2
7.4
23
54
G80.1
ICD-10 Finland
Spastic diplegic cerebral palsy
74.4
6.5
7
*

LabWAS

↥
OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3007853) Bacteria identified in Skin by Aerobe culture
27
98
3.32
6.18
2.6
1.7
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
24
95
2.95
4.68
1.5
1.4
—
—
—
0
0
(40758558) Short blood count panel - Blood
40
208
2.44
4.56
8.0
8.8
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
25
108
2.70
4.13
2.8
2.1
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
59
375
2.22
4.13
13.0
7.3
mmol/l
1.2
1.2
2.14
50
323
(40768443) Skin Pathology biopsy report
12
33
3.96
4.04
1.3
1.3
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
47
289
2.09
3.42
11.5
7.9
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
85
665
2.19
3.07
4.5
3.6
pmol/l
14.3
14.8
1.06
80
598
(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability
6
9
6.97
2.90
2.3
1.2
—
—
—
0
0
(3029080) Hemoglobin [Entitic mass] in Reticulocytes
6
9
6.97
2.90
2.5
2.0
pg
30.2
32.0
—
6
9
(3020779) Urea [Moles/volume] in Serum or Plasma
17
73
2.57
2.82
23.1
7.1
mmol/l
10.8
8.0
0.68
17
73
(3003458) Phosphate [Moles/volume] in Serum or Plasma
23
116
2.24
2.70
13.8
6.4
mmol/l
1.2
1.1
0.45
23
111
(3021440) Promyelocytes/100 leukocytes in Blood
16
69
2.54
2.63
8.7
4.7
%
0.0
0.2
—
5
20
(3018095) Leukocytes [#/volume] in Urine
44
286
1.89
2.61
5.4
3.6
e6/l
37.9
53.4
0.29
33
197
(3017181) Myelocytes/100 leukocytes in Blood
17
76
2.46
2.60
8.2
4.4
%
0.7
0.9
—
6
21
(3000850) Epithelial cells [#/volume] in Urine
29
164
2.04
2.55
4.1
2.2
e6/l
5.9
4.1
0.61
24
144
(3013707) Erythrocyte sedimentation rate by Westergren method
82
655
1.96
2.50
5.6
4.0
mm/h
12.7
9.7
0.92
77
601
(3025159) Blasts/100 leukocytes in Blood
16
71
2.46
2.48
8.7
4.5
%
0.0
0.4
—
5
19
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
12
46
2.80
2.45
3.0
1.9
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
7
17
4.32
2.40
3.4
1.5
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
55
394
1.78
2.32
16.5
9.8
e9/l
0.0
0.0
0.00
49
323
(3002179) Metamyelocytes/100 leukocytes in Blood
16
74
2.36
2.28
8.5
4.4
%
0.0
0.5
—
5
18
(3002582) Erythrocytes [#/volume] in Urine
38
246
1.83
2.23
4.5
2.9
e6/l
17.3
54.1
1.10
32
185
(3002256) Pathology report gross observation
17
82
2.27
2.21
1.4
1.1
—
—
—
0
0
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
9
30
3.17
2.20
2.1
2.0
—
—
—
0
0
(3049717) Cytology report of Urine Cyto stain
7
19
3.86
2.19
2.3
2.4
—
—
—
0
0
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
8
25
3.37
2.14
2.4
3.9
%
151.1
162.6
—
8
25
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
94
805
2.09
2.11
5.5
4.3
mu/l
24.9
1.9
0.51
88
732
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
5
10
5.18
2.09
1.4
1.1
—
—
—
0
0
(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection
5
10
5.18
2.09
3.2
1.6
—
—
—
0
0
(3002032) Base excess in Venous blood by calculation
17
85
2.18
2.03
7.4
7.2
mmol/l
1.5
1.7
0.12
11
65
(3000991) Gas panel - Venous blood
15
71
2.29
2.03
11.6
6.4
—
—
—
0
0
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
8
27
3.11
1.98
1.4
1.6
—
—
—
0
0
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
6
16
3.90
1.96
1.2
1.6
—
—
—
0
0
(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection
5
11
4.70
1.96
3.2
1.5
—
—
—
0
0
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
9
34
2.79
1.91
14.0
8.1
%
0.6
0.7
—
9
34
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
8
28
3.00
1.90
2.9
3.5
%
93.6
90.0
—
8
28
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
80
660
1.76
1.90
12.4
7.3
u/l
90.2
83.3
0.46
80
615
(3012095) Magnesium [Moles/volume] in Serum or Plasma
21
118
1.96
1.86
8.7
4.4
mmol/l
0.8
0.8
0.65
21
112
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
9
35
2.71
1.85
14.1
8.0
%
1.2
1.6
—
9
35
(3007164) IgA [Mass/volume] in Serum or Plasma
34
225
1.74
1.81
2.5
1.5
g/l
2.3
2.3
0.07
21
127
(40768804) Tissue Pathology biopsy report
43
306
1.66
1.75
2.7
1.8
—
—
—
0
0
(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma
35
236
1.71
1.74
3.0
2.1
u/l
264.0
243.7
0.07
35
225
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
39
271
1.68
1.74
4.5
3.1
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
14
69
2.18
1.73
6.5
3.3
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
30
195
1.74
1.69
9.8
4.6
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
28
179
1.75
1.67
3.2
2.7
—
—
—
0
0
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
5
14
3.69
1.63
3.2
1.6
—
—
—
0
0
(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma
5
14
3.69
1.63
3.6
2.1
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
36
249
1.66
1.62
3.1
2.6
—
—
—
0
0
(3008401) Mugwort IgE Ab [Units/volume] in Serum
7
27
2.70
1.54
1.1
1.0
u/ml
3.3
1.0
—
7
14
(3014148) Varicella zoster virus Ab [Titer] in Serum
5
15
3.44
1.54
1.2
1.3
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
31
209
1.67
1.53
3.3
2.8
—
—
—
0
0
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
9
37
2.56
1.52
1.4
1.4
—
—
—
0
0
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
36
253
1.63
1.51
1.6
1.4
u/ml
5.5
1.3
—
9
54
(4035726)
13
66
2.10
1.50
2.8
1.2
—
—
—
0
0
(3020630) Protein [Mass/volume] in Serum or Plasma
12
59
2.16
1.50
4.5
2.2
g/l
65.2
66.9
0.31
12
53
(3003888) Timothy IgE Ab [Units/volume] in Serum
7
28
2.60
1.48
1.1
1.0
u/ml
3.6
11.4
—
7
18
(3030467) Casts [#/volume] in Urine by Automated count
32
220
1.64
1.46
5.0
2.9
e6/l
0.2
0.2
0.26
27
158
(3009261) Glucose [Presence] in Urine by Test strip
55
431
1.55
1.45
5.7
3.3
estimate
0.0
0.0
0.00
11
72
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
49
375
1.55
1.43
5.1
4.3
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
6
23
2.70
1.38
1.7
1.4
—
—
—
0
0
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
5
17
3.03
1.37
1.2
1.3
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
102
944
1.99
1.32
25.4
13.4
umol/l
88.1
74.5
0.81
102
944
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
6
24
2.58
1.32
1.5
1.4
—
—
—
0
0
(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood
10
49
2.14
1.26
10.6
3.6
mmol/l
1.2
1.2
—
10
40
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
21
134
1.70
1.26
7.8
2.9
ng/l
28.4
64.8
0.71
16
87
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
18
110
1.76
1.25
3.0
1.9
—
—
—
0
0
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
8
37
2.25
1.24
7.0
4.3
%
65.8
57.2
—
8
37
(3011397) Hemoglobin [Presence] in Urine by Test strip
27
185
1.61
1.24
4.7
3.5
—
—
—
0
0
(3017732) Neutrophils [#/volume] in Blood
12
64
1.98
1.23
3.3
2.3
e9/l
3.6
4.2
0.29
12
58
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
5
19
2.71
1.23
3.2
2.3
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
21
135
1.69
1.23
2.7
2.7
e6/l
1.0
2.3
0.76
13
73
(3037467) Urinalysis macro (dipstick) panel - Urine
69
581
1.50
1.22
6.1
3.8
—
—
—
0
0
(3018418) pH of Serum or Plasma
31
221
1.56
1.21
8.2
3.5
ph
7.4
7.4
—
7
30
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
22
144
1.66
1.20
2.6
2.6
e6/l
0.7
0.9
0.28
13
80
(3015736) pH of Urine
43
330
1.49
1.20
4.9
3.1
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
53
425
1.47
1.19
7.1
4.6
estimate
0.0
0.0
0.00
12
77
(3032080) INR in Blood by Coagulation assay
38
285
1.51
1.18
15.3
7.1
inr
1.3
1.2
0.12
12
92
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
26
179
1.59
1.17
2.1
2.0
mg/l
1.6
1.1
0.62
19
135
(44816844) Macroprolactin [Units/volume] in Serum or Plasma
5
20
2.57
1.16
1.6
1.2
—
—
—
0
0
(3022313) Gas panel - Capillary blood
8
41
2.02
1.11
4.0
3.6
—
—
—
0
0
(3012110) Lysozyme [Mass/volume] in Serum or Plasma
5
21
2.44
1.10
1.0
1.4
mg/l
16.8
10.8
—
5
21
(3023511) Choriogonadotropin [Units/volume] in Urine
5
21
2.44
1.10
2.4
1.5
—
—
—
0
0
(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma
20
131
1.64
1.09
2.7
2.5
mmol/l
2.5
2.4
0.75
20
112
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
7
34
2.13
1.05
12.1
7.8
—
—
—
0
0
(3013512) EKG study
30
219
1.51
1.05
3.3
3.7
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
13
76
1.80
1.04
2.9
1.8
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
13
76
1.80
1.04
3.2
1.9
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
8
141
0.53
1.02
1.5
1.7
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
7
35
2.07
1.02
2.3
1.8
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
90
814
1.56
1.02
18.9
10.3
ml/min/173m2
89.0
89.7
0.07
72
640
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
32
0.00
0.96
0.0
1.6
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
10
55
1.90
0.95
11.8
9.6
mmol/l
24.1
25.8
—
10
55
(3019225) pH of Specimen
12
71
1.77
0.93
8.7
5.0
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
30
225
1.46
0.91
4.8
2.7
—
—
—
0
0
(3025941) Bacteria identified in Stool by Culture
10
56
1.86
0.91
1.6
1.3
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
15
96
1.65
0.90
1.5
1.5
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
51
423
1.38
0.89
5.3
3.3
estimate
0.0
0.0
—
10
78
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
36
282
1.41
0.87
2.1
1.8
pmol/l
97.0
93.0
0.27
28
137
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
65
733
0.73
0.85
3.4
3.4
—
—
—
0
0
(3012516) Albumin [Mass/volume] in Urine
25
187
1.43
0.77
3.9
3.6
mg/l
91.7
399.1
0.44
15
123
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
84
765
1.40
0.77
7.0
5.0
mmol/mol
39.1
39.1
0.01
79
714
(3020682) Albumin/Creatinine [Ratio] in Urine
26
197
1.42
0.75
4.6
4.3
mg/mmol
19.9
11.0
0.21
15
129
(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection
7
40
1.80
0.73
1.3
1.7
—
—
—
0
0
(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma
10
61
1.70
0.71
2.6
2.1
ug/l
18.8
4.6
—
10
55
(3020891) Body temperature
5
28
1.82
0.67
15.0
5.2
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
27
212
1.36
0.64
9.0
5.0
—
—
—
0
0
(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma
21
159
1.40
0.61
1.6
1.3
iu/ml
15.4
27.2
—
8
53
(3019309) Folate [Moles/volume] in Red Blood Cells
17
126
1.41
0.56
2.6
1.4
nmol/l
889.6
1228.3
1.26
17
87
(3004716) Salmonella sp identified in Stool by Organism specific culture
9
62
1.49
0.55
1.9
1.3
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
28
339
0.77
0.54
2.9
2.5
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
11
75
1.52
0.53
1.2
1.0
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
20
155
1.35
0.51
1.5
1.3
u/ml
20.5
8.2
—
5
69
(3004588) Protein electrophoresis panel - Serum or Plasma
7
45
1.59
0.50
5.9
1.9
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
7
47
1.52
0.48
1.6
1.3
—
—
—
0
0
(3000492) Spirometry study
5
84
0.58
0.47
1.2
1.4
—
—
—
0
0
(3008898) HLA-B27 [Presence]
7
49
1.46
0.47
1.1
1.1
—
—
—
0
0
(3044889) 12 lead EKG panel
61
554
1.22
0.44
4.5
3.2
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
(3039443) Prostate specific Ag panel - Serum or Plasma
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
(3003740) Influenza virus B Ag [Presence] in Specimen
0
19
0.00
0.39
0.0
1.2
—
—
—
0
0
(3002523) Influenza virus A Ag [Presence] in Specimen
0
19
0.00
0.39
0.0
1.2
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
16
199
0.77
0.37
3.1
1.7
—
—
—
0
0
(3019060) Gas panel - Arterial blood
6
41
1.49
0.36
9.7
5.1
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
29
249
1.22
0.35
4.6
2.7
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
6
88
0.66
0.34
1.0
1.9
—
—
—
0
0
(3048689) Calprotectin [Mass/mass] in Stool
18
147
1.27
0.33
4.4
2.4
ug/g
330.1
99.9
0.73
13
124
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
10
130
0.75
0.31
1.3
1.4
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
29
253
1.20
0.30
1.4
1.5
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
13
104
1.28
0.28
1.4
1.2
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
9
72
1.27
0.26
8.0
2.8
—
—
—
0
0
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
5
42
1.20
0.22
1.4
1.4
—
—
—
0
0
(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(3000093) Morphology [Interpretation] in Blood Narrative
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
0
12
0.00
0.21
0.0
4.2
—
—
—
0
0
(3042975) Streptococcus sp identified in Isolate by Organism specific culture
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
(4146454)
0
12
0.00
0.21
0.0
3.3
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
36
330
1.13
0.20
5.5
3.3
—
—
—
0
0
(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay
0
14
0.00
0.20
0.0
1.0
—
1.4
—
0
6
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
3.7
—
67.9
—
0
14
(3013139) Helicobacter pylori Ag [Presence] in Stool
6
51
1.19
0.20
1.2
1.2
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
12
100
1.22
0.19
1.2
1.2
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
93
907
1.16
0.17
27.7
12.2
mg/l
21.0
21.8
0.10
83
664
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
8
96
0.82
0.14
1.9
2.1
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
8
98
0.80
0.14
11.0
6.2
—
—
—
0
0
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
88
859
1.12
0.13
5.4
4.4
mmol/l
2.6
2.8
1.65
83
798
(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma
5
47
1.07
0.09
4.4
3.4
pmol/l
4.8
4.6
—
5
42
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
18
165
1.11
0.09
3.8
3.9
%
32.5
23.2
0.50
11
68
(46235355) HIV 1 and 2 tests - Meaningful Use set
27
254
1.08
0.09
2.3
2.0
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
7
80
0.87
0.07
1.7
2.1
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
17
158
1.09
0.06
2.7
1.6
—
—
—
0
0
(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma
15
140
1.08
0.04
1.9
1.8
%
1.4
1.4
0.10
15
127
(40761511) CBC panel - Blood by Automated count
96
950
1.08
0.04
21.9
10.6
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
86
869
0.95
0.03
19.7
13.9
%
37.5
41.2
2.24
60
680
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
16
168
0.94
0.02
1.6
2.3
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
22
227
0.96
0.01
7.0
3.3
estimate
0.0
0.0
0.00
11
77
(3019832) Treponema pallidum Ab [Presence] in Serum
14
142
0.98
0.00
1.6
1.9
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
22
222
0.99
0.00
1.5
1.7
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
30
302
0.99
0.00
3.9
3.0
ng/l
27.3
36.7
0.31
23
182
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
18
183
0.98
0.00
1.7
2.4
—
—
—
0
0
(40758292) HTLV I+II Ab panel - Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3032567) Hepatitis B virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection
0
5
0.00
0.00
0.0
2.8
—
—
—
0
0
(3013005) Retinol [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
1.7
—
0
6
(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3017817) Protein [Mass] in Urine collected for unspecified duration
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.3
—
0.9
—
0
7
(40761995) Spermatozoa Progressive [#/volume] in Semen
0
8
0.00
0.00
0.0
3.3
—
—
—
0
0
(3028433) Virus identified in Specimen by Culture
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3012447) Hantavirus puumala IgG Ab [Titer] in Serum
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3044927) Protein electrophoresis panel - Urine
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3051611) Lipemic interference index of Serum or Plasma
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
(3000963) Hemoglobin [Mass/volume] in Blood
104
1035
1.08
0.00
35.1
17.8
g/l
133.1
138.0
2.37
104
1018
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40768806) Pleura Pathology biopsy report
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3006922) Hepatitis E virus Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3024731) MCV [Entitic volume]
104
1034
1.09
0.00
34.7
17.7
fl
89.6
90.0
0.37
104
1018
(3051651) Icteric interference index of Serum or Plasma
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3014043) Spermatozoa Nonprogressive/100 spermatozoa in Semen
0
8
0.00
0.00
0.0
6.5
—
—
—
0
0
(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay
0
6
0.00
0.00
0.0
1.0
—
108.8
—
0
6
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(44816808) CXCL13 Ag [Mass/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027544) Mycobacterium sp identified in Sputum by Organism specific culture
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
26.3
—
0
6
(3028334) Neisseria gonorrhoeae [Presence] in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3032352) Blasts [#/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
9.0
—
—
—
0
0
(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
3.6
—
—
—
0
0
(3035941) MCH [Entitic mass]
104
1034
1.09
0.00
34.7
17.6
pg
29.9
30.1
0.79
104
1018
(3036603) Volume of Urine
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3038026) Centromere Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3034988) Calcium [Moles/volume] in Capillary blood
0
5
0.00
0.00
0.0
1.6
—
1.2
—
0
5
(3029075) Extractable nuclear Ab panel - Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
6
63
0.95
0.00
1.0
1.5
—
—
—
0
0
(3002619) Bacteria identified in Specimen by Culture
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3022145) Colonoscopy Study observation
9
92
0.98
0.00
2.1
1.4
—
—
—
0
0
(42868499) Enterovirus IgG Ab [Presence] in Cerebral spinal fluid by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3000034) Microalbumin [Mass/volume] in Urine
0
5
0.00
0.00
0.0
3.8
—
28.4
—
0
5
(3045683) HLA typing for celiac disease panel - Blood or Tissue
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(40768800) Prostate Pathology biopsy report
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_ICHTHYOSIS and mortality.

Females

Parameter HR [95% CI] p-value
Q17_CONGEN_ICHTHYOSIS 2.725 [1.83, 4.05] < 0.001
Birth year 0.999 [0.99, 1.01] 0.719

During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 389 females with Q17_CONGEN_ICHTHYOSIS died.

Males

Parameter HR [95% CI] p-value
Q17_CONGEN_ICHTHYOSIS 2.096 [1.48, 2.97] < 0.001
Birth year 0.987 [0.98, 1.0] 0.009

During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 677 males with Q17_CONGEN_ICHTHYOSIS died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_ICHTHYOSIS.

N-year risk Females Males
1 0.288% 0.393%
5 1.607% 2.023%
10 3.991% 5.884%
15 8.222% 11.596%
20 14.303% 19.161%

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_ICHTHYOSIS – Congenital ichthyosis

GWS hits: 2

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
loading spinner Loading data