Congenital malformations of breast

Q17_CONGEN_MALFO_BREAST

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 Q83
  • Cause of death: ICD-10 Q83

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

646

4. Check minimum number of events

None

646

5. Include endpoints

None

646

6. Filter based on genotype QC (FinnGen only)

646

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
Malformationes congenitae mammae

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 4263 4107 135
Only index persons 4143 4029 114
Unadjusted period prevalence (%)
Whole population 0.11 0.12 0.00
Only index persons 0.14 0.15 0.00
Median age at first event (years)
Whole population 29.72 30.19 14.84
Only index persons 29.83 30.23 15.89

-FinnGen-

Key figures

All Female Male
Number of individuals 646 635 11
Unadjusted period prevalence (%) 0.21 0.22 0.00
Median age at first event (years) 32.68 32.48 44.00

-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

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
580
Matched controls
5799
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q83.8
ICD-10 Finland
Other congenital malformations of breast
+∞
323.0
293
*
Q83.1
ICD-10 Finland
Accessory breast
+∞
239.7
213
*
HAD10
NOMESCO Finland
Augmentation of breast using prosthesis
190.5
119.4
121
8
HAC30
NOMESCO Finland
Excision of supernumerary mammary gland or mamilla
897.1
81.5
78
*
HAD40
NOMESCO Finland
Mastopexy
185.7
64.4
66
*
Q83.9
ICD-10 Finland
Congenital malformation of breast, unspecified
+∞
63.7
60
*
ZZF00
NOMESCO Finland
Graft of adipose tissue
39.2
47.7
60
17
HAD99
NOMESCO Finland
Other plastic operation on breast
40.9
47.3
59
16
Q83.3
ICD-10 Finland
Accessory nipple
+∞
36.9
35
*
HA1AE
NOMESCO Finland
Ultrasound examination of mammary glands
5.8
35.8
109
221
HAD50
NOMESCO Finland
Removal of prosthetic implant from breast
45.0
28.0
34
8
HAE99
NOMESCO Finland
Other reconstruction of breast
20.4
26.9
40
21
HAD00
NOMESCO Finland
Augmentation mammoplasty
146.8
26.9
28
*
ZXA10
NOMESCO Finland
Bilateral
3.7
26.3
132
433
WX404
NOMESCO Finland
Intravenous generell anesthesy
3.0
24.0
172
725
ZXE10
NOMESCO Finland
More than one and less than three hours
2.5
22.4
235
1232
HAD30
NOMESCO Finland
Reduction mammoplasty with transposition of areola
5.4
21.4
67
138
N64.2
ICD-10 Finland
Atrophy of breast
206.8
19.7
20
*
QBE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin of trunk
4.7
18.1
64
150
HA1AA
NOMESCO Finland
X-ray mammography
4.1
16.9
69
186
N64.8
ICD-10 Finland
Other specified disorders of breast
19.2
16.1
24
13
ZXD10
NOMESCO Finland
Scheduled procedure
2.2
16.1
233
1374
QBJ00
NOMESCO Finland
Liposuction in trunk
19.9
15.7
23
12
HAB00
NOMESCO Finland
Excision of lesion of mammary gland
6.1
15.1
41
71
T85.4
ICD-10 Finland
Mechanical complication of breast prosthesis and implant
23.0
14.3
20
9
WX408
NOMESCO Finland
General anesthesy, balanced
2.2
14.2
166
879
HAD60
NOMESCO Finland
Replacement of prosthetic implant in breast
43.6
14.2
17
*
N64.9
ICD-10 Finland
Disorder of breast, unspecified
9.4
13.9
28
31
N62
ICD-10 Finland
Hypertrophy of breast
3.8
13.3
57
161
Z42.1
ICD-10 Finland
Follow-up care involving plastic surgery of breast
14.5
12.8
21
15
6114A
ICD-9 Finland
Other disorders of breast, Atrophy of breast
44.2
11.0
13
*
QB2S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in chest
13.2
10.7
18
14
Q83.0
ICD-10 Finland
Congenital absence of breast with absent nipple
+∞
10.4
10
*
N64.5
ICD-10 Finland
Other signs and symptoms in breast
4.9
9.8
31
66
N02BE01
ATC
paracetamol; systemic, rectal
2.0
9.6
483
4145
ZXA05
NOMESCO Finland
Left side
2.1
9.4
113
593
Q83
ICD-10 Finland
Congenital malformations of breast
+∞
9.4
9
*
9729
FHL
Other measure in this category
22.1
9.4
13
6
ZXE00
NOMESCO Finland
One hour or less
1.7
9.0
240
1675
HAB99
NOMESCO Finland
Other partial excision of mammary gland
5.8
8.8
24
43
WX402
NOMESCO Finland
General anaesthesia
2.1
8.7
112
606
HAE00
NOMESCO Finland
Reconstruction of breast using prosthesis
13.0
8.4
14
11
LC2BE
NOMESCO Finland
Transvaginal ultrasound examination of uterus, parametria and lower abdomen
1.7
8.3
247
1765
Y83
ICD-10 Finland
Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
3.2
8.2
41
133
QBJ99
NOMESCO Finland
Other aesthetic correction of skin of trunk
+∞
7.3
7
*
Z3226
NOMESCO Finland
Physiotherapist
2.0
7.0
94
515
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
1.6
7.0
235
1716
N60.9
ICD-10 Finland
Benign mammary dysplasia, unspecified
14.0
6.9
11
8
P01AB01
ATC
metronidazole; oral, rectal
1.6
6.8
242
1786
ZXA00
NOMESCO Finland
Right side
1.9
6.8
105
605
THW99
NOMESCO Finland
Other minor procedure in surgery of mammary gland
5.3
6.7
19
37
QBB10
NOMESCO Finland
Major dressing of wound of skin of trunk
3.4
6.4
29
88
QBE20
NOMESCO Finland
Excision and repair of scar or web of skin of trunk
8.3
6.4
13
16
N63
ICD-10 Finland
Unspecified lump in breast
2.3
6.2
53
240
R10.3
ICD-10 Finland
Pain localized to other parts of lower abdomen
1.6
6.1
182
1277
R10.1
ICD-10 Finland
Pain localized to upper abdomen
1.9
6.0
94
545

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_BREAST and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_BREAST.

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_CONGEN_MALFO_BREAST – Congenital malformations of breast

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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