Other congenital malformations of female genitalia

Q17_OTHER_CONGEN_MALFO_FEMALE_GENITALIA

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 Q52
  • Cause of death: ICD-10 Q52

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

344

4. Check minimum number of events

None

344

5. Include endpoints

None

344

6. Filter based on genotype QC (FinnGen only)

344

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
Aliae malformationes congenitae organorum genitalium femininorum

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 344 344 -
Unadjusted period prevalence (%) 0.12 0.12 -
Median age at first event (years) 21.31 21.31 -

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
318
Matched controls
3181
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q52.4
ICD-10 Finland
Other congenital malformations of vagina
+∞
80.7
74
*
Q52.1
ICD-10 Finland
Doubling of vagina
+∞
61.5
57
*
Q52.3
ICD-10 Finland
Imperforate hymen
+∞
53.7
50
*
LFA10
NOMESCO Finland
Incision of imperforate hymen or remnant of hymen
144.2
47.2
49
*
Q52.0
ICD-10 Finland
Congenital absence of vagina
+∞
39.4
37
*
Q52.5
ICD-10 Finland
Fusion of labia
+∞
37.2
35
*
Q52.8
ICD-10 Finland
Other specified congenital malformations of female genitalia
+∞
29.6
28
*
LEC10
NOMESCO Finland
Excision of vaginal septum
+∞
25.3
24
*
Q51.0
ICD-10 Finland
Agenesis and aplasia of uterus
+∞
25.3
24
*
Q52.7
ICD-10 Finland
Other congenital malformations of vulva
+∞
22.1
21
*
Q52.9
ICD-10 Finland
Congenital malformation of female genitalia, unspecified
+∞
20.0
19
*
Q51.2
ICD-10 Finland
Other doubling of uterus
+∞
18.9
18
*
LEB10
NOMESCO Finland
Excision of lesion of vagina
27.0
18.5
25
10
Q51.1
ICD-10 Finland
Doubling of uterus with doubling of cervix and vagina
+∞
17.9
17
*
LEE96
NOMESCO Finland
Other repair of vagina
84.1
14.7
16
*
LFA00
NOMESCO Finland
Incision of vulva or perineum
48.6
12.0
14
*
N89.7
ICD-10 Finland
Haematocolpos
124.3
11.5
12
*
N89.8
ICD-10 Finland
Other specified noninflammatory disorders of vagina
19.6
10.4
15
8
N91.0
ICD-10 Finland
Primary amenorrhoea
18.2
9.5
14
8
LEB20
NOMESCO Finland
Marsupialisation of vaginal cyst
+∞
9.4
9
*
Z09.0
ICD-10 Finland
Follow-up examination after surgery for other conditions
3.7
8.5
37
110
Q51.3
ICD-10 Finland
Bicornate uterus
+∞
8.4
8
*
N89.6
ICD-10 Finland
Tight hymenal ring
17.8
8.1
12
7
LFE10
NOMESCO Finland
Plastic repair of vulva
22.7
8.1
11
5
UKC02
NOMESCO Finland
Cystoscopy
3.4
7.2
34
108
LC2BE
NOMESCO Finland
Transvaginal ultrasound examination of uterus, parametria and lower abdomen
1.9
6.9
144
967

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_FEMALE_GENITALIA – Other congenital malformations of female genitalia

GWS hits: -

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