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Indeterminate sex and pseudohermaphroditism

Q17_INDET_SEX_PSEUDOHE

pseudohermaphroditism: A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.

Suggest a new description

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 Q56
  • Cause of death: ICD-10 Q56

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

35

4. Check minimum number of events

None

35

5. Include endpoints

None

35

6. Filter based on genotype QC (FinnGen only)

35

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_GENITAL_ORGANS

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q5
Name in latin
Pseudohermaphroditismus

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 331 197 133
Only index persons 269 168 101
Unadjusted period prevalence (%)
Whole population 0.00 0.01 0.00
Only index persons 0.01 0.01 0.00
Median age at first event (years)
Whole population 27.67 40.18 8.92
Only index persons 40.77 46.11 31.87

-FinnGen-

Key figures

All Female Male
Number of individuals 35 24 11
Unadjusted period prevalence (%) 0.01 0.01 0.00
Median age at first event (years) 54.81 53.61 57.42

-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

No data

-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
(3000492) Spirometry study
7
16
5.18
2.62
1.3
1.4
—
—
—
0
0
(3022145) Colonoscopy Study observation
9
30
3.67
2.35
1.1
1.2
—
—
—
0
0
(3005322) IgE [Units/volume] in Serum or Plasma
5
9
6.26
2.29
1.2
1.6
u/ml
32.3
161.5
—
5
9
(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma
7
19
4.33
2.28
2.9
2.6
pmol/l
4.4
4.5
—
7
14
(40768797) Stomach Pathology biopsy report
9
36
3.01
1.91
1.2
1.2
—
—
—
0
0
(3017446) Testosterone [Moles/volume] in Serum or Plasma
5
12
4.66
1.89
8.6
1.5
nmol/l
7.6
14.0
—
5
12
(21494755) Public health laboratory ask at order entry panel
5
17
3.25
1.41
1.6
1.4
—
—
—
0
0
(3001122) Ferritin [Mass/volume] in Serum or Plasma
18
119
2.06
1.21
3.1
2.4
ug/l
71.9
97.3
0.82
18
101
(3042936) Bacteria identified in Isolate by Culture
7
36
2.17
1.04
2.1
2.3
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
7
36
2.17
1.04
8.9
7.8
—
—
—
0
0
(3002385) Erythrocyte distribution width [Ratio]
19
242
0.53
0.96
13.9
18.8
%
13.7
14.1
0.63
19
237
(3032080) INR in Blood by Coagulation assay
17
121
1.79
0.84
6.9
6.8
inr
1.6
1.1
—
6
41
(3030981) Hyaline casts [#/volume] in Urine by Automated count
0
26
0.00
0.82
0.0
3.2
—
0.2
—
0
26
(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma
7
38
2.05
0.79
6.0
5.2
%
35.0
35.0
—
7
21
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
16
114
1.74
0.78
5.2
4.3
ng/l
78.3
58.2
0.11
11
86
(42870588) Differential panel, method unspecified - Blood
13
87
1.79
0.77
2.2
4.5
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
6
100
0.52
0.77
1.3
3.1
—
—
—
0
0
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
11
71
1.80
0.73
2.4
2.1
mg/l
2.8
3.3
0.42
11
58
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
6
99
0.53
0.64
1.5
2.8
u/l
21.5
27.1
—
6
92
(3015736) pH of Urine
15
111
1.61
0.60
3.2
4.2
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
9
120
0.66
0.45
3.0
3.4
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
13
99
1.50
0.44
2.2
2.5
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
15
118
1.47
0.43
5.1
4.6
—
—
—
0
0
(3019225) pH of Specimen
5
33
1.60
0.43
6.0
3.5
—
—
—
0
0
(3035941) MCH [Entitic mass]
30
316
0.65
0.42
21.3
23.4
pg
30.3
30.2
0.06
30
310
(3024731) MCV [Entitic volume]
30
316
0.65
0.42
21.4
23.5
fl
91.2
91.1
0.03
30
310
(3007461) Platelets [#/volume] in Blood
30
316
0.65
0.42
21.4
23.5
e9/l
251.3
247.9
0.12
30
308
(3000963) Hemoglobin [Mass/volume] in Blood
30
316
0.65
0.42
21.5
24.4
g/l
133.1
133.1
0.00
30
310
(3010813) Leukocytes [#/volume] in Blood
30
316
0.65
0.42
21.5
23.6
e9/l
6.8
6.7
0.14
30
304
(3026361) Erythrocytes [#/volume] in Blood
30
316
0.65
0.42
21.4
23.5
e12/l
4.4
4.4
0.05
30
305
(3000330) Specific gravity of Urine by Test strip
0
15
0.00
0.42
0.0
4.4
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
18
0.00
0.41
0.0
1.4
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
15
125
1.35
0.29
2.2
2.0
pmol/l
107.1
94.7
—
7
51
(3041096) Erythrocytes [Presence] in Urine by Automated
11
87
1.39
0.29
3.8
3.9
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
9
73
1.31
0.29
2.1
2.4
—
—
—
0
0
(40758558) Short blood count panel - Blood
6
79
0.71
0.28
2.0
9.3
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
27
247
1.41
0.25
11.7
16.1
%
41.0
39.5
0.92
16
176
(3026008) Bacteria identified in Urine by Culture
9
111
0.75
0.25
2.6
3.8
—
—
—
0
0
(3022948) Iron [Moles/volume] in Serum or Plasma
5
39
1.33
0.24
2.0
2.2
umol/l
14.9
11.8
—
5
33
(40761511) CBC panel - Blood by Automated count
29
302
0.77
0.22
15.5
13.4
—
—
—
0
0
(3049717) Cytology report of Urine Cyto stain
0
11
0.00
0.22
0.0
1.5
—
—
—
0
0
(3008898) HLA-B27 [Presence]
0
11
0.00
0.22
0.0
1.0
—
—
—
0
0
(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay
0
10
0.00
0.22
0.0
1.3
—
—
—
0
0
(3000620) Complement C3 [Mass/volume] in Serum or Plasma
0
10
0.00
0.22
0.0
1.5
—
1.3
—
0
10
(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay
0
10
0.00
0.22
0.0
1.3
—
—
—
0
0
(1761482) Bacteria [#/volume] in Urine by Culture
0
12
0.00
0.21
0.0
5.7
—
—
—
0
0
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
(3019550) Sodium [Moles/volume] in Serum or Plasma
29
299
0.82
0.21
17.6
19.2
mmol/l
140.1
139.7
0.48
29
286
(3023103) Potassium [Moles/volume] in Serum or Plasma
29
299
0.82
0.21
17.6
19.1
mmol/l
3.9
4.0
0.18
29
286
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
5
65
0.73
0.19
3.4
4.5
ng/l
1154.4
105.9
—
5
55
(3023368) Bacteria identified in Blood by Culture
7
88
0.74
0.17
4.0
4.6
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
15
168
0.81
0.16
2.7
2.6
—
—
—
0
0
(3013512) EKG study
8
97
0.77
0.16
7.1
4.4
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
16
145
1.19
0.12
4.9
4.2
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
5
45
1.13
0.10
1.8
1.2
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
30
304
0.91
0.10
16.2
18.9
umol/l
73.9
77.5
0.35
30
304
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
5
63
0.76
0.09
4.0
4.8
ug/l
1.6
1.8
—
5
54
(40760892) CBC W Ordered Manual Differential panel - Blood
6
72
0.80
0.08
3.2
7.5
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
6
69
0.84
0.08
2.7
4.0
%
103.3
87.8
—
6
69
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
28
270
1.18
0.08
12.2
16.5
ml/min/173m2
81.1
75.8
0.59
23
217
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
7
80
0.84
0.08
1.1
1.7
mmol/l
1.4
1.2
—
7
65
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
25
261
0.85
0.08
7.3
6.4
mmol/mol
39.1
40.5
0.35
25
240
(36304419) Bacteria [Presence] in Urine
8
88
0.88
0.08
2.3
3.2
—
—
—
0
0
(3024561) Albumin [Mass/volume] in Serum or Plasma
13
138
0.91
0.03
3.7
3.9
g/l
36.1
35.1
0.31
13
129
(3031040) Bacteria [#/volume] in Urine by Automated count
21
203
1.09
0.02
5.3
5.7
—
431.6
—
0
8
(40768804) Tissue Pathology biopsy report
12
123
0.96
0.00
2.5
2.0
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
21
207
1.04
0.00
5.4
5.0
—
—
—
0
0
(44806118)
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(21494890) Protein electrophoresis panel - 24 hour Urine
0
5
0.00
0.00
0.0
7.0
—
—
—
0
0
(3003458) Phosphate [Moles/volume] in Serum or Plasma
5
48
1.05
0.00
4.4
5.6
mmol/l
0.9
1.0
—
5
42
(3005988) Vibrio sp identified in Specimen by Organism specific culture
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3022806) Fractional oxyhemoglobin in Capillary blood
0
5
0.00
0.00
0.0
3.8
—
91.1
—
0
5
(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting
0
5
0.00
0.00
0.0
1.0
—
1.1
—
0
5
(3020717) Zinc [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
12.1
—
0
5
(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
9
97
0.90
0.00
2.6
2.5
u/l
44.1
53.0
—
9
90
(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(44790048)
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3025130) Human papilloma virus identified in Specimen
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3014051) Protein [Presence] in Urine by Test strip
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3032773) Endomysium IgG Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019230) Fractional oxyhemoglobin in Venous blood
0
5
0.00
0.00
0.0
5.8
—
59.0
—
0
5
(44790047)
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(44790049)
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3034770) Mitochondria Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count
0
8
0.00
0.00
0.0
4.5
—
—
—
0
0
(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
2.9
—
—
—
0
0
(3024928) Oxygen saturation in Venous blood
0
7
0.00
0.00
0.0
5.7
—
—
—
0
0
(3008757) Leukocyte morphology finding [Identifier] in Blood
0
7
0.00
0.00
0.0
4.6
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
3.0
—
104.4
—
0
8
(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
9
0.00
0.00
0.0
3.1
—
6.2
—
0
9
(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.6
—
0.2
—
0
9
(3024891) Influenza virus A+B Ag [Presence] in Specimen
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.1
—
2.7
—
0
7
(3011397) Hemoglobin [Presence] in Urine by Test strip
6
63
0.94
0.00
6.0
4.5
—
—
—
0
0
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
0
6
0.00
0.00
0.0
2.2
—
199.0
—
0
6
(3013290) Carbon dioxide [Partial pressure] in Blood
0
9
0.00
0.00
0.0
3.8
—
5.0
—
0
9
(3035285) Chloride [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
2.7
—
108.8
—
0
6
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
0
9
0.00
0.00
0.0
5.8
—
96.9
—
0
9
(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(4034850)
0
7
0.00
0.00
0.0
7.9
—
—
—
0
0
(3009340) Metanephrine [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
6.3
—
0
6
(3013727) Leukocytes other/100 leukocytes in Blood
0
6
0.00
0.00
0.0
5.3
—
58.9
—
0
6
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
(3033705) Calcium.ionized [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
(3044242) Glucose [Moles/volume] in Arterial blood
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay
0
7
0.00
0.00
0.0
4.3
—
3.5
—
0
7
(3023419) Bacteria identified in Sputum by Culture
0
6
0.00
0.00
0.0
3.0
—
—
—
0
0
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3012095) Magnesium [Moles/volume] in Serum or Plasma
5
57
0.86
0.00
6.0
3.5
mmol/l
0.8
0.8
—
5
52
(3036489) Thrombin time
0
7
0.00
0.00
0.0
3.0
—
23.1
—
0
7
(3048929) Epstein Barr virus Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
0
9
0.00
0.00
0.0
3.1
—
1.5
—
0
9
(3003694) ABO and Rh group [Type] in Blood
7
78
0.87
0.00
2.7
1.3
—
—
—
0
0
(3044889) 12 lead EKG panel
19
190
1.00
0.00
3.7
3.8
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
5
57
0.86
0.00
1.2
1.6
—
—
—
0
0
(3012110) Lysozyme [Mass/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.8
—
11.5
—
0
8
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
(3037756) Immunofixation for Serum or Plasma
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3027315) Oxygen [Partial pressure] in Blood
0
9
0.00
0.00
0.0
3.8
—
9.5
—
0
9
(3003181) Sodium [Moles/volume] in Urine
0
7
0.00
0.00
0.0
1.4
—
86.9
—
0
7
(3052851) Hemolysis interference index of Serum or Plasma
0
9
0.00
0.00
0.0
2.2
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3028271) Lactate [Moles/volume] in Capillary blood
0
7
0.00
0.00
0.0
3.1
—
1.8
—
0
7
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
(3041354) Potassium [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
2.7
—
3.9
—
0
6

Mortality – FinRegistry

Association

Association between endpoint Q17_INDET_SEX_PSEUDOHE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_INDET_SEX_PSEUDOHE.

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_INDET_SEX_PSEUDOHE – Indeterminate sex and pseudohermaphroditism

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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