info icon

This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

Other congenital malformations of integument

Q17_OTHER_CONGEN_MALFO_INTEG

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 Q84
  • Cause of death: ICD-10 Q84

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

33

4. Check minimum number of events

None

33

5. Include endpoints

None

33

6. Filter based on genotype QC (FinnGen only)

33

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
Aliae malformationes congenitae integumenti communis

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 511 262 249
Only index persons 338 168 170
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population - 3.79 2.43
Only index persons 7.85 9.18 6.53

-FinnGen-

Key figures

All Female Male
Number of individuals 33 17 16
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 25.84 27.78 23.78

-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

Not a core endpoint, no data to show.

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.

No data available

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
(3023368) Bacteria identified in Blood by Culture
11
42
3.43
2.48
3.7
5.2
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
8
23
4.24
2.46
1.8
2.0
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
8
24
4.06
2.36
1.1
1.6
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
19
105
2.91
2.27
6.1
8.0
umol/l
10.9
10.5
0.10
19
98
(3018677) aPTT in Platelet poor plasma by Coagulation assay
8
26
3.72
2.18
2.3
5.0
s
30.2
29.0
—
8
26
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
24
168
2.57
1.75
8.0
6.6
u/l
97.5
82.5
0.52
24
154
(40768797) Stomach Pathology biopsy report
6
20
3.43
1.66
1.3
1.2
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
12
60
2.57
1.63
3.1
4.9
ng/l
21.0
16.2
—
6
32
(3044889) 12 lead EKG panel
22
151
2.37
1.46
4.2
2.8
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
14
79
2.34
1.46
1.5
1.5
g/l
2.0
2.0
—
7
40
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
6
25
2.70
1.31
5.8
11.1
mmol/l
24.4
25.5
—
6
25
(42870588) Differential panel, method unspecified - Blood
14
85
2.12
1.19
6.1
8.0
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
7
32
2.50
1.16
1.7
2.3
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
5
22
2.49
1.07
1.6
4.5
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
7
37
2.13
1.01
1.3
1.1
—
—
—
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)
26
215
1.98
0.90
12.5
8.4
ml/min/173m2
99.5
95.4
0.39
20
169
(3026008) Bacteria identified in Urine by Culture
9
52
2.00
0.86
2.0
2.3
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
6
33
2.00
0.83
1.5
1.7
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
13
86
1.84
0.82
4.2
5.5
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
9
56
1.83
0.81
2.2
2.9
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
7
39
2.00
0.79
2.1
3.3
—
—
—
0
0
(3022145) Colonoscopy Study observation
5
25
2.17
0.76
2.2
1.2
—
—
—
0
0
(3015736) pH of Urine
14
98
1.74
0.72
2.6
2.9
—
—
—
0
0
(3026782) Osmolality of Urine
7
43
1.79
0.72
2.6
1.9
mosm/kgh2o
604.9
576.5
—
7
36
(3003694) ABO and Rh group [Type] in Blood
11
72
1.79
0.70
1.5
1.4
—
—
—
0
0
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
12
82
1.73
0.66
4.3
5.0
u/l
33.8
30.8
0.20
12
76
(3008401) Mugwort IgE Ab [Units/volume] in Serum
0
20
0.00
0.62
0.0
1.0
—
3.7
—
0
15
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
19
0.00
0.62
0.0
1.7
—
293.8
—
0
13
(3023351) European house dust mite IgE Ab [Units/volume] in Serum
0
22
0.00
0.62
0.0
1.0
—
4.4
—
0
14
(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma
7
47
1.62
0.52
4.4
2.3
u/l
129.7
159.5
—
7
47
(3013512) EKG study
7
47
1.62
0.52
1.6
2.9
—
—
—
0
0
(40758558) Short blood count panel - Blood
10
70
1.61
0.49
4.2
7.2
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
5
32
1.66
0.44
2.0
1.6
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
9
68
1.44
0.43
2.6
2.5
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
9
68
1.44
0.43
5.1
3.7
—
—
—
0
0
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
5
35
1.50
0.41
2.8
5.5
ng/l
316.0
1084.5
—
5
29
(3037522) Nuclear Ab [Titer] in Serum
5
36
1.46
0.40
2.0
1.8
—
640.0
—
0
8
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
5
36
1.46
0.40
2.2
1.7
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
8
63
1.35
0.31
1.6
1.7
—
—
—
0
0
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
0
11
0.00
0.22
0.0
9.5
—
1.0
—
0
11
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
0
11
0.00
0.22
0.0
3.5
—
55.7
—
0
11
(3024889) Methemoglobin/Hemoglobin.total in Venous blood
0
11
0.00
0.22
0.0
9.5
—
0.8
—
0
11
(3002523) Influenza virus A Ag [Presence] in Specimen
0
11
0.00
0.22
0.0
1.0
—
—
—
0
0
(3003740) Influenza virus B Ag [Presence] in Specimen
0
11
0.00
0.22
0.0
1.0
—
—
—
0
0
(3027273) Bicarbonate [Moles/volume] in Venous blood
0
10
0.00
0.22
0.0
3.9
—
25.6
—
0
10
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
0
10
0.00
0.22
0.0
1.4
—
—
—
0
0
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
12
0.00
0.21
0.0
2.1
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
(3004119) Hemoglobin [Mass/volume] in Venous blood
0
14
0.00
0.20
0.0
9.4
—
131.1
—
0
14
(3001019) Free T4 and TSH panel - Serum or Plasma
0
14
0.00
0.20
0.0
1.7
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
11
92
1.29
0.19
3.0
3.2
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
8
66
1.28
0.19
3.3
2.2
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
8
68
1.23
0.18
3.5
2.2
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
6
76
0.74
0.18
3.0
2.0
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
9
77
1.23
0.18
3.0
2.4
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
18
164
1.21
0.14
3.2
3.6
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
28
270
1.24
0.09
10.6
13.0
%
39.9
40.0
0.02
19
230
(3011397) Hemoglobin [Presence] in Urine by Test strip
7
64
1.12
0.09
2.9
3.3
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
7
67
1.06
0.08
3.4
3.2
mmol/l
2.3
2.4
—
7
60
(1761868) Lipid panel - Serum or Plasma
10
93
1.11
0.02
1.8
2.2
—
—
—
0
0
(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
0
6
0.00
0.00
0.0
111.5
—
—
—
0
0
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
5
50
1.00
0.00
1.2
1.8
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3009340) Metanephrine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3007930) Methemoglobin/Hemoglobin.total in Blood
0
6
0.00
0.00
0.0
81.2
—
0.9
—
0
6
(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.2
—
43.8
—
0
6
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
(3016921) Smith extractable nuclear Ab [Units/volume] in Serum
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3029634) Reagin Ab [Titer] in Serum by VDRL
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3026389) Candida sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood
0
6
0.00
0.00
0.0
81.2
—
1.6
—
0
6
(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
25
245
1.08
0.00
3.2
3.9
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3039162) Centromere protein B Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
6
0.00
0.00
0.0
3.3
—
—
—
0
0
(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3030366) Cystatin C [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
26.3
—
1.0
—
0
7
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
0
7
0.00
0.00
0.0
2.4
—
—
—
0
0
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.0
—
2.1
—
0
5
(3032773) Endomysium IgG Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3043849) Epstein Barr virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection
0
5
0.00
0.00
0.0
7.6
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
0
7
0.00
0.00
0.0
3.0
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
9
95
0.93
0.00
2.9
1.7
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.0
—
7.0
—
0
5

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_INTEG and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_INTEG.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_INTEG – Other congenital malformations of integument

GWS hits: -

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