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Other sex chromosome abnormalities, female phenotype, not elsewhere classified

Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_FEMALE_PHENOT_NOT_ELSEW_CLASSIFIED

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 Q97
  • Cause of death: ICD-10 Q97

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

32

4. Check minimum number of events

None

32

5. Include endpoints

None

32

6. Filter based on genotype QC (FinnGen only)

32

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
DF4
Parent code in ICD-10
Q9
Name in latin
Aliae abnormitates chromosomatum sexualium patientis phaenotypo femininae non alibi classificatae

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 332 301 29
Only index persons 280 253 27
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.00
Only index persons 0.01 0.01 0.00
Median age at first event (years)
Whole population 13.08 12.98 12.74
Only index persons 16.23 16.31 15.49

-FinnGen-

Key figures

All Female Male
Number of individuals 32 32 -
Unadjusted period prevalence (%) 0.01 0.01 -
Median age at first event (years) 32.08 32.08 -

-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
(42870588) Differential panel, method unspecified - Blood
18
88
3.39
2.83
10.4
5.9
—
—
—
0
0
(3020961) Endomysium IgA Ab [Titer] in Serum
6
14
5.00
2.27
1.2
1.4
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
6
17
4.09
1.94
1.3
1.6
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
7
25
3.29
1.77
5.1
1.4
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
6
23
2.97
1.44
4.2
3.0
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
8
34
2.79
1.41
5.0
2.1
—
—
—
0
0
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
23
166
2.37
1.40
12.2
6.1
u/l
78.4
80.8
0.12
18
155
(3000492) Spirometry study
5
19
2.92
1.26
1.2
1.3
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
5
21
2.63
1.13
1.8
1.3
—
—
—
0
0
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
14
87
2.08
1.12
2.1
1.4
u/ml
0.4
0.6
—
5
20
(1001926) Buprenorphine [Presence] in Urine by Screen method
5
22
2.50
1.07
1.8
1.2
—
—
—
0
0
(3012544) pH of Venous blood
0
28
0.00
1.03
0.0
5.5
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
6
27
2.50
1.00
2.0
2.4
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
13
82
1.99
0.97
2.4
2.6
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
13
83
1.95
0.93
4.0
3.3
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
6
31
2.15
0.90
1.7
2.2
—
—
—
0
0
(3024354) Oxygen [Partial pressure] in Venous blood
0
26
0.00
0.82
0.0
5.6
—
5.0
—
0
26
(3021447) Carbon dioxide [Partial pressure] in Venous blood
0
27
0.00
0.81
0.0
5.7
—
5.8
—
0
27
(3002032) Base excess in Venous blood by calculation
0
27
0.00
0.81
0.0
5.7
—
1.6
—
0
19
(3028300) Cannabinoids [Presence] in Urine
5
24
2.28
0.78
1.8
1.3
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
5
24
2.28
0.78
1.8
1.3
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
5
25
2.18
0.76
1.8
1.2
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
5
25
2.18
0.76
1.8
1.2
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
11
71
1.84
0.74
5.4
3.2
estimate
0.0
0.0
—
6
24
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
5
27
2.00
0.72
1.4
1.9
—
—
—
0
0
(3015736) pH of Urine
15
109
1.71
0.68
4.2
2.6
—
—
—
0
0
(40761535) Cells panel - Urine sediment
0
20
0.00
0.63
0.0
2.5
—
—
—
0
0
(3007628) Bicarbonate [Moles/volume] standard in Venous blood
0
20
0.00
0.63
0.0
6.5
—
24.1
—
0
20
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
9
59
1.73
0.62
1.9
2.5
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
21
0.00
0.62
0.0
1.3
—
233.8
—
0
10
(3023368) Bacteria identified in Blood by Culture
6
37
1.76
0.59
6.2
4.6
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
23
195
1.64
0.59
11.0
3.9
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
9
64
1.56
0.58
1.2
1.8
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
6
39
1.66
0.56
1.8
1.2
—
—
—
0
0
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
27
239
1.83
0.55
3.3
2.7
mmol/l
5.9
5.3
0.48
21
224
(3013512) EKG study
7
44
1.75
0.54
2.0
2.5
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
7
102
0.60
0.50
1.9
1.7
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
12
88
1.58
0.49
5.7
2.5
—
—
—
0
0
(40758558) Short blood count panel - Blood
10
70
1.62
0.49
7.8
6.0
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
14
107
1.55
0.48
5.4
2.9
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
8
58
1.50
0.46
4.4
3.4
%
92.9
90.2
—
8
58
(36304419) Bacteria [Presence] in Urine
10
71
1.59
0.46
2.9
3.2
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
17
137
1.51
0.46
6.1
4.4
estimate
0.0
0.0
—
6
25
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
5
32
1.66
0.44
1.6
1.7
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
16
128
1.50
0.44
3.9
4.6
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
17
138
1.49
0.43
4.8
2.9
estimate
0.0
0.0
—
5
26
(3000330) Specific gravity of Urine by Test strip
0
15
0.00
0.42
0.0
1.7
—
—
—
0
0
(3028626) Oxygen [Partial pressure] in Capillary blood
0
16
0.00
0.42
0.0
12.6
—
9.4
—
0
16
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
0
17
0.00
0.42
0.0
1.4
—
88.6
—
0
7
(21494755) Public health laboratory ask at order entry panel
5
36
1.46
0.40
1.6
1.2
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
17
140
1.46
0.39
4.8
3.1
estimate
0.0
0.0
—
6
25
(3019198) Lymphocytes [#/volume] in Blood
18
150
1.46
0.39
12.2
5.2
e9/l
2.3
2.0
1.14
18
135
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
6
44
1.45
0.37
1.2
1.3
—
3.4
—
0
17
(3023103) Potassium [Moles/volume] in Serum or Plasma
27
251
1.48
0.30
24.7
10.2
mmol/l
3.8
3.9
0.33
27
243
(1761868) Lipid panel - Serum or Plasma
8
102
0.71
0.26
3.5
2.0
—
—
—
0
0
(3030366) Cystatin C [Mass/volume] in Serum or Plasma
0
11
0.00
0.22
0.0
14.9
—
1.4
—
0
11
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
0
10
0.00
0.22
0.0
1.2
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
6
49
1.28
0.21
1.8
1.5
—
—
—
0
0
(3003327) Ova and parasites identified in Stool by Light microscopy
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
5
66
0.71
0.19
1.2
1.6
—
—
—
0
0
(3044889) 12 lead EKG panel
16
141
1.27
0.19
4.1
2.5
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
8
69
1.21
0.18
8.3
3.0
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
6
78
0.72
0.18
1.7
2.4
—
—
—
0
0
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
25
233
1.33
0.17
3.8
2.9
mmol/l
2.7
2.8
0.13
20
219
(3003694) ABO and Rh group [Type] in Blood
13
113
1.25
0.16
1.5
2.0
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
6
54
1.14
0.09
1.2
1.7
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
8
72
1.15
0.08
2.0
2.2
—
—
—
0
0
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
24
231
1.16
0.08
4.1
2.9
mmol/l
1.4
1.5
0.80
19
219
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
9
99
0.87
0.07
1.3
1.8
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
23
222
1.13
0.07
3.7
2.7
mmol/l
1.3
1.1
0.83
18
208
(40768804) Tissue Pathology biopsy report
11
101
1.14
0.05
2.6
1.8
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
13
122
1.11
0.03
1.5
2.2
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
10
105
0.93
0.00
1.2
2.0
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
0.0
—
0
5
(3042975) Streptococcus sp identified in Isolate by Organism specific culture
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(4211845)
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(1761482) Bacteria [#/volume] in Urine by Culture
0
7
0.00
0.00
0.0
2.3
—
—
—
0
0
(3024889) Methemoglobin/Hemoglobin.total in Venous blood
0
7
0.00
0.00
0.0
2.9
—
0.8
—
0
7
(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay
0
5
0.00
0.00
0.0
6.2
—
70.8
—
0
5
(3025130) Human papilloma virus identified in Specimen
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
0
9
0.00
0.00
0.0
3.8
—
37.8
—
0
9
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
0.0
—
0
5
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
0
8
0.00
0.00
0.0
2.6
—
2.2
—
0
8
(3020630) Protein [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.3
—
70.3
—
0
7
(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3014051) Protein [Presence] in Urine by Test strip
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
2.9
—
0
5
(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
103.2
—
0
5
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
3.0
—
3.8
—
0
5
(3004119) Hemoglobin [Mass/volume] in Venous blood
0
9
0.00
0.00
0.0
2.8
—
132.3
—
0
9
(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay
0
5
0.00
0.00
0.0
2.2
—
104.2
—
0
5
(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
0.0
—
0
5
(42529406) Shigella sp [Presence] in Stool by Culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
6.2
—
0
5
(3020891) Body temperature
0
5
0.00
0.00
0.0
2.8
—
—
—
0
0
(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
10.7
—
0
5
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
3.5
—
0
5
(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
2.0
—
0
5
(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
3.3
—
51.7
—
0
7
(3006462) Nitrate [Presence] in Urine
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
8
86
0.91
0.00
1.3
2.4
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
9
95
0.93
0.00
1.6
1.4
—
—
—
0
0
(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis
0
5
0.00
0.00
0.0
1.2
—
41.0
—
0
5
(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.0
—
18.5
—
0
5

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_FEMALE_PHENOT_NOT_ELSEW_CLASSIFIED and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_FEMALE_PHENOT_NOT_ELSEW_CLASSIFIED.

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_SEX_CHROMOSOME_ABNORMALITI_FEMALE_PHENOT_NOT_ELSEW_CLASSIFIED – Other sex chromosome abnormalities, female phenotype, not elsewhere classified

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
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