Congenital malformations of uterus and cervix

Q17_CONGEN_MALFO_UTERUS_CERVIX

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

only females

293373

2. Check conditions

None

293373

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

Registry filters:

  • Hospital discharge: ICD-10 Q51
  • Cause of death: ICD-10 Q51

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

814

4. Check minimum number of events

None

814

5. Include endpoints

None

814

6. Filter based on genotype QC (FinnGen only)

814

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_GENITAL_ORGANS

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF12
Parent code in ICD-10
Q5
Name in latin
Malformationes congenitae uteri et cervicis uteri

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 814 814 -
Unadjusted period prevalence (%) 0.28 0.28 -
Median age at first event (years) 31.48 31.48 -

-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
744
Matched controls
7438
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q51.3
ICD-10 Finland
Bicornate uterus
+∞
268.5
241
*
Q51.2
ICD-10 Finland
Other doubling of uterus
+∞
249.4
225
*
Q51.1
ICD-10 Finland
Doubling of uterus with doubling of cervix and vagina
+∞
185.4
170
*
Q51.9
ICD-10 Finland
Congenital malformation of uterus and cervix, unspecified
+∞
89.4
84
*
O34.0
ICD-10 Finland
Maternal care for congenital malformation of uterus
110.0
89.4
96
10
Q51.4
ICD-10 Finland
Unicornate uterus
+∞
81.8
77
*
ULC02
NOMESCO Finland
Hysteroscopy
10.2
81.0
172
213
Q51.8
ICD-10 Finland
Other congenital malformations of uterus and cervix
+∞
66.7
63
*
O32.1
ICD-10 Finland
Maternal care for breech presentation
6.7
64.4
181
339
Q51.0
ICD-10 Finland
Agenesis and aplasia of uterus
+∞
49.5
47
*
MCA10
NOMESCO Finland
Lower uterine segment caesarean section
3.3
39.6
246
961
LEC10
NOMESCO Finland
Excision of vaginal septum
+∞
38.9
37
*
LC2BE
NOMESCO Finland
Transvaginal ultrasound examination of uterus, parametria and lower abdomen
2.7
37.3
424
2430
LC2DE
NOMESCO Finland
Demanding ultrsound examination of uterus, parametrium and lower part of abdomen with speciel methods
4.9
33.2
118
278
O82.0
ICD-10 Finland
Delivery by elective caesarean section
4.2
31.4
129
351
O34.2
ICD-10 Finland
Maternal care due to uterine scar from previous surgery
3.5
28.1
148
495
LCB25
NOMESCO Finland
Hysteroscopic excision of lesion
5.1
26.8
88
189
O64.1
ICD-10 Finland
Obstructed labour due to breech presentation
6.0
23.1
65
116
N96
ICD-10 Finland
Habitual aborter
12.7
23.0
41
34
Q52.0
ICD-10 Finland
Congenital absence of vagina
+∞
23.0
22
*
O60
ICD-10 Finland
Preterm labour and delivery
4.6
21.1
76
180
7522A
ICD-9 Finland
Congenital anomalies of genital organs, Doubling of uterus
+∞
20.9
20
*
O80.0
ICD-10 Finland
Spontaneous vertex delivery
0.4
20.8
149
2747
JAH01
NOMESCO Finland
Laparoscopy
4.2
20.4
81
211
Q52.1
ICD-10 Finland
Doubling of vagina
+∞
19.9
19
*
Z09.0
ICD-10 Finland
Follow-up examination after surgery for other conditions
3.4
18.8
95
303
LCC05
NOMESCO Finland
Hysteroscopic excision of uterine wall
+∞
18.8
18
*
N97.9
ICD-10 Finland
Female infertility, unspecified
2.9
18.8
129
509
N84.0
ICD-10 Finland
Polyp of corpus uteri
3.6
18.3
87
265
N97.8
ICD-10 Finland
Female infertility of other origin
4.7
18.2
63
143
LC2HE
NOMESCO Finland
Hystero-salpingography with ultrasound
3.3
18.0
97
325
O02.1
ICD-10 Finland
Missed abortion
3.0
17.6
112
421
LC2AE
NOMESCO Finland
Ultrasound examination of uterus and parametria
2.4
17.2
170
823
O82.10
ICD-10 Finland
Delivery by emergency caesarean section
2.7
16.7
124
512
Z35.8
ICD-10 Finland
Supervision of other high-risk pregnancies
2.3
16.3
168
825
G03GA01
ATC
chorionic gonadotrophin; parenteral
3.2
16.2
90
306
LCA10
NOMESCO Finland
Curettage of body of uterus
5.7
16.0
46
85
Z35.0
ICD-10 Finland
Supervision of pregnancy with history of infertility
3.7
15.2
69
202
N80.3
ICD-10 Finland
Endometriosis of pelvic peritoneum
3.6
14.8
68
201
LEE96
NOMESCO Finland
Other repair of vagina
152.9
14.5
15
*
Q50.10
ICD-10 Finland
A developmental cyst in the ovary
152.9
14.5
15
*
TLW12
NOMESCO Finland
Insertion of frozen embryo
4.9
14.5
47
100
G03GA05
ATC
follitropin alfa; parenteral
3.3
14.1
72
232
Z30.1
ICD-10 Finland
Insertion of (intrauterine) contraceptive device
0.4
13.8
52
1262
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
5.1
13.8
43
88
TLW10
NOMESCO Finland
Transfer of fresh embryo
4.6
13.6
47
107
LAA10
NOMESCO Finland
Percutaneous or transvaginal puncture and recovery of oocyte
3.7
13.5
59
168
N80.1
ICD-10 Finland
Endometriosis of ovary
3.6
13.0
60
179
N91.0
ICD-10 Finland
Primary amenorrhoea
23.0
12.9
18
8
N83.2
ICD-10 Finland
Other and unspecified ovarian cysts
2.4
12.9
121
565
N92.0
ICD-10 Finland
Excessive and frequent menstruation with regular cycle
2.2
12.4
131
646
H01CA02
ATC
nafarelin; nasal
3.4
12.4
60
186
O03.4
ICD-10 Finland
Spontaneous abortion, Incomplete, without complication
3.9
12.2
50
135
G03GA06
ATC
follitropin beta; parenteral
3.8
12.0
51
142
NE1AG
NOMESCO Finland
MRI pelvimetry with high intensity magnet
5.8
11.9
33
59
R10.3
ICD-10 Finland
Pain localized to other parts of lower abdomen
1.8
11.8
261
1712
7523A
ICD-9 Finland
Congenital anomalies of genital organs, Other anomalies of uterus
66.0
11.6
13
*
G03DA04
ATC
progesterone; systemic, rectal, vaginal
3.7
11.4
50
143
LX1AE
NOMESCO Finland
Gynecological ultrasound examination as part of clinical examination
2.0
11.2
159
889
G03GA02
ATC
human menopausal gonadotrophin; parenteral
3.6
11.1
50
147
G02BA03
ATC
plastic IUD with progestogen
0.4
11.0
43
1040
G03CA03
ATC
estradiol; nasal, systemic, rectal, transdermal, vaginal
1.8
10.9
255
1691
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
1.7
10.5
313
2227
H01CC01
ATC
ganirelix; parenteral
3.2
10.5
55
182
Q51.5
ICD-10 Finland
Agenesis and aplasia of cervix
+∞
10.4
10
*
N95.0
ICD-10 Finland
Postmenopausal bleeding
3.1
10.2
55
186
LBF01
NOMESCO Finland
Laparoscopic perfusion of Fallopian tube
4.2
10.1
37
91
WX320
NOMESCO Finland
Spinalanesthesy
1.9
9.8
162
951
Z35.2
ICD-10 Finland
Supervision of pregnancy with other poor reproductive or obstetric history
3.5
9.7
44
130
LCA13
NOMESCO Finland
Curettage of cervix and body of uterus
3.5
9.7
45
136
Z31.2
ICD-10 Finland
In vitrofertilization
6.1
9.6
25
42
WX408
NOMESCO Finland
General anesthesy, balanced
1.8
9.5
182
1126
B02AA02
ATC
tranexamic acid; systemic
1.9
9.5
148
853
O20.0
ICD-10 Finland
Threatened abortion
3.1
9.4
50
168
W84
ICPC
Pregnancy high risk
2.4
9.2
77
337
Z09.8
ICD-10 Finland
Follow-up examination after other treatment for other conditions
3.0
8.9
50
172
O32.2
ICD-10 Finland
Maternal care for transverse and oblique lie
5.7
8.8
24
43
LAC21
NOMESCO Finland
Laparoscopic destruction of lesion of ovary
5.6
8.7
24
44
MAB20
NOMESCO Finland
Failed external version
3.7
8.7
36
100
LCA06
NOMESCO Finland
Biopsy of endometrium
2.0
8.4
115
626
6500B
ICD-9 Finland
Delivery in a completely normal case[PARTUS SINE COMPLICATIONE]
0.4
8.4
38
866
Q60.0
ICD-10 Finland
Renal agenesis, unilateral
+∞
8.3
8
*
N97.1
ICD-10 Finland
Female infertility of tubal origin
4.9
8.3
26
55
O20.9
ICD-10 Finland
Haemorrhage in early pregnancy, unspecified
2.6
8.3
59
237
MBA00
NOMESCO Finland
Vacuum aspiration from uterus after delivery or abortion
3.2
8.1
40
128
MBA05
NOMESCO Finland
Curettage of uterus after abortion
4.5
8.0
27
62
G03DB01
ATC
dydrogesterone; oral
1.8
7.8
154
952
LBE01
NOMESCO Finland
Laparoscopic salpingectomy
3.2
7.8
39
126
UKC02
NOMESCO Finland
Cystoscopy
2.5
7.7
62
265
G03AC03
ATC
levonorgestrel; systemic
0.3
7.6
21
587
XLA10
NOMESCO Finland
NA
2.6
7.5
52
206
75253
ICD-8 Finland
Congenital anomalies of genital organs, Uterus didelphys
80.9
7.4
8
*
N80.0
ICD-10 Finland
Endometriosis of uterus
3.4
7.4
34
104
N97.0
ICD-10 Finland
Female infertility associated with anovulation
2.8
7.4
44
161
75250
ICD-8 Finland
Congenital anomalies of genital organs, Uterus subseptus unicollis et uterus septus
+∞
7.3
7
*
N02BE01
ATC
paracetamol; systemic, rectal
1.7
7.2
602
5349
MA1AE
NOMESCO Finland
Ultrasound examination of early pregnancy (before 12. postmenstrual week)
1.7
7.1
167
1088
JAP00
NOMESCO Finland
Freeing of adhesions in the peritoneal cavity
10.2
7.1
13
13
LCA98
NOMESCO Finland
Other transluminal endoscopic operation on uterus
10.2
7.1
13
13
G03DC03
ATC
lynestrenol; oral
3.4
7.0
32
97
W12
ICPC
Contraception intrauterine
0.5
7.0
58
1075
LCD00
NOMESCO Finland
Hysterectomy
3.1
6.9
36
121
TLW00
NOMESCO Finland
Insemination
2.8
6.9
41
150
Z35.1
ICD-10 Finland
Supervision of pregnancy with history of abortive outcome
6.8
6.8
16
24
Z32.1
ICD-10 Finland
Pregnancy confirmed
1.7
6.8
163
1068
O00.8
ICD-10 Finland
Other ectopic pregnancy
16.9
6.8
10
6
L02AE01
ATC
buserelin; implant, nasal, parenteral
5.0
6.7
20
41
JN2CG
NOMESCO Finland
Extensive MRI examination of lower part of abdoment with high intensity magnet
5.2
6.7
19
37
R19.0
ICD-10 Finland
Intra-abdominal and pelvic swelling, mass and lump
3.9
6.6
25
65
WX400
NOMESCO Finland
Inhalation anesthesy
2.6
6.6
47
191
N85.7
ICD-10 Finland
Haematometra
12.4
6.6
11
9
MBA40
NOMESCO Finland
Pharmacological evacuation of uterus after abortion
3.0
6.5
37
129
LA2AE
NOMESCO Finland
Ultrasound examination of ovarian cyst
2.7
6.5
43
168
LCG98
NOMESCO Finland
Other transluminal endoscopic reconstructive operation on uterus
70.4
6.4
7
*
7524A
ICD-9 Finland
Congenital anomalies of genital organs, Anomalies of cervix, vagina and external female genitalia
70.4
6.4
7
*
ZXE10
NOMESCO Finland
More than one and less than three hours
1.6
6.4
222
1597
L02BG04
ATC
letrozole; oral
2.2
6.4
64
309
6522B
ICD-9 Finland
Malposition and malpresentation of foetus, Breech presentation without mention of version[PRAESENTATIO CLUNIUM,SYNNYTYKSEN AIKANA]
4.4
6.3
21
49
Z71.2
ICD-10 Finland
Person consulting for explanation of investigation findings
1.6
6.2
176
1203
N99.4
ICD-10 Finland
Postprocedural pelvic peritoneal adhesions
7.1
6.2
14
20
N80.9
ICD-10 Finland
Endometriosis, unspecified
2.7
6.0
37
139

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: Q17_CONGEN_MALFO_UTERUS_CERVIX – Congenital malformations of uterus and cervix

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).