No definition available.
Other congenital malformations, not elsewhere classified
Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
304 |
4. Check minimum number of eventsNone |
304 |
5. Include endpointsNone |
304 |
6. Filter based on genotype QC (FinnGen only) |
304 |
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
- Aliae malformationes congenitae non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Other congenital malformations, not elsewhere classified
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3086 | 1558 | 1514 |
| Only index persons | 2386 | 1228 | 1158 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.04 | 0.04 |
| Only index persons | 0.04 | 0.05 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 10.81 | 12.42 | 8.94 |
| Only index persons | 16.53 | 18.98 | 13.93 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 304 | 188 | 116 |
| Unadjusted period prevalence (%) | 0.06 | 0.06 | 0.05 |
| Median age at first event (years) | 32.31 | 33.26 | 30.77 |
-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
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
- 277
- Matched controls
- 2770
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q89.23
ICD-10 Finland
Cyst of the ductus thyreoglossus
+∞
93.1
84
*
Q89.7
ICD-10 Finland
Multiple congenital malformations, not elsewhere classified
+∞
69.8
64
*
ENB50
NOMESCO Finland
Excision of cyst or fistula of thyroglossic duct
633.1
54.5
52
*
Q89.9
ICD-10 Finland
Congenital malformation, unspecified
+∞
31.9
30
*
Q89.34
ICD-10 Finland
Cartagena syndrome (immotile cilia)
+∞
24.3
23
*
ZXD10
NOMESCO Finland
Scheduled procedure
3.7
23.2
150
671
Q89.30
ICD-10 Finland
Situs inversus with dextrocardia
+∞
22.2
21
*
ZXE10
NOMESCO Finland
More than one and less than three hours
3.6
21.7
139
604
Q89.88
ICD-10 Finland
Other specified congenital malformations
+∞
21.1
20
*
Z31.5
ICD-10 Finland
Genetic counselling
6.6
18.3
49
87
WX408
NOMESCO Finland
General anesthesy, balanced
3.3
17.6
119
517
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
+∞
16.8
16
*
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.6
15.6
58
151
Q89.22
ICD-10 Finland
Permanent ductus thyreoglossus
+∞
14.7
14
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.6
14.7
44
90
ZXE00
NOMESCO Finland
One hour or less
2.7
14.3
143
776
Z2446
NOMESCO Finland
Social worker
4.0
13.7
59
176
Q18.8
ICD-10 Finland
Other specified congenital malformations of face and neck
42.3
13.3
16
*
J47
ICD-10 Finland
Bronchiectasis
19.1
12.2
18
10
R4110
NOMESCO Finland
Physiotherapy
2.8
11.8
94
434
Q18.0
ICD-10 Finland
Sinus, fistula and cyst of branchial cleft
31.6
11.8
15
5
Z2445
NOMESCO Finland
Psychologist
4.0
11.5
47
133
Z3226
NOMESCO Finland
Physiotherapist
2.9
11.4
82
353
R22.1
ICD-10 Finland
Localized swelling, mass and lump, neck
7.6
11.3
26
37
XA800
NOMESCO Finland
Neuropsychological investigation
4.7
10.8
37
88
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.7
10.8
88
408
R62.0
ICD-10 Finland
Delayed milestone
6.5
10.6
27
45
Z3229
NOMESCO Finland
Other healthcare associate professional
3.8
9.9
43
128
EP1AE
NOMESCO Finland
Neck ultrasound examination
4.9
9.6
31
69
WX402
NOMESCO Finland
General anaesthesia
2.7
9.6
72
315
Q24.0
ICD-10 Finland
Dextrocardia
103.4
9.5
10
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.9
9.3
62
252
TPH07
NOMESCO Finland
Cathetrisation of artery
3.6
9.1
41
126
Z2221
NOMESCO Finland
Medical doctor
2.4
9.1
98
519
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
13.1
9.0
15
12
XF400
NOMESCO Finland
ECG with 12 standard connections
2.8
8.7
62
261
UDC00
NOMESCO Finland
Ear microscopy
3.8
8.6
37
109
F82
ICD-10 Finland
Specific developmental disorder of motor function
8.3
8.5
18
23
J45.9
ICD-10 Finland
Asthma, unspecified
2.7
8.4
61
260
Q89.00
ICD-10 Finland
Asplenia (congenital)
+∞
8.4
8
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.3
8.1
42
144
Z3231
NOMESCO Finland
Registered nurse
2.2
8.0
99
555
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
3.5
7.9
36
112
RS220
NOMESCO Finland
NA
9.8
7.9
15
16
Q21.10
ICD-10 Finland
Persistent ostium secundum
9.8
7.9
15
16
ZXD30
NOMESCO Finland
Difficulties in perfomrming procedure
4.7
7.9
26
60
ZXE05
NOMESCO Finland
Procedure duration 40 to 49 minutes
4.0
7.9
31
85
R1100
NOMESCO Finland
General evaluation of the need for rehabilitation
6.3
7.8
20
34
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.6
7.8
35
107
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
4.8
7.8
25
56
ZXA00
NOMESCO Finland
Right side
2.5
7.8
67
314
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
6.1
7.7
20
35
ZXD20
NOMESCO Finland
Day surgery
2.9
7.7
47
180
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
9.3
7.6
15
17
H65.3
ICD-10 Finland
Chronic mucoid otitis media
3.8
7.6
32
93
RL140
NOMESCO Finland
NA
10.5
7.6
14
14
F83
ICD-10 Finland
Mixed specific developmental disorders
5.9
7.5
20
36
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.6
7.5
58
255
7593A
ICD-9 Finland
Other and unspecified congenital anomalies, Situs inversus
+∞
7.3
7
*
Q89.20
ICD-10 Finland
Congenital malformation of pituitary gland
+∞
7.3
7
*
ZXA05
NOMESCO Finland
Left side
2.4
7.3
67
325
R1260
NOMESCO Finland
Evaluation of communicative skills
16.3
7.3
11
7
TPH04
NOMESCO Finland
Cathetrisation of vein
2.5
7.3
62
288
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
3.0
7.2
41
150
UGC02
NOMESCO Finland
Rigid bronchoscopy
20.7
7.2
10
5
J01MA14
ATC
moxifloxacin; systemic
4.0
7.1
27
72
H52.2
ICD-10 Finland
Astigmatism
7.3
7.1
16
23
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.1
7.0
105
632
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.5
7.0
58
265
ZXE04
NOMESCO Finland
Procedure duration 30 to 39 minutes
3.5
6.9
31
96
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
2.4
6.8
64
313
R03BB04
ATC
tiotropium bromide; inhalant
4.3
6.8
24
60
ZXE20
NOMESCO Finland
More than three and less than five hours
2.7
6.8
46
188
J45.1
ICD-10 Finland
Nonallergic asthma
3.2
6.7
35
121
KFH00
NOMESCO Finland
Operation for undescended or ectopic testis
12.7
6.6
11
9
UDQ12
NOMESCO Finland
Flexible laryngoscopy
4.6
6.5
21
48
XX9AW
NOMESCO Finland
Production of copy from X-ray picture
5.8
6.4
17
31
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.5
6.4
52
235
H90.6
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, bilateral
9.6
6.3
12
13
XF404
NOMESCO Finland
Ambulatory ECG
3.3
6.3
30
97
ZXA10
NOMESCO Finland
Bilateral
2.4
6.3
58
278
Q89.21
ICD-10 Finland
Congenital malformation of the thyroid gland
+∞
6.3
6
*
Q89.38
ICD-10 Finland
Another site inversus
+∞
6.3
6
*
EP1DG
NOMESCO Finland
Very extensive examination of soft tissue of neck with high intesity magnet
27.4
6.3
8
*
TDW99
NOMESCO Finland
Other minor procedure in surgery of ear, nose and larynx
6.0
6.2
16
28
AA5HE
NOMESCO Finland
Brain ultrasound examination in a child
4.6
6.2
20
46
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
12.9
6.1
10
8
N30.9
ICD-10 Finland
Cystitis, unspecified
4.5
6.1
20
47
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED | 2.187 [1.37, 3.49] | 0.001 |
| Birth year | 1.0 [0.99, 1.01] | 0.963 |
During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 1318 females with Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED | 2.337 [1.7, 3.21] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.018 |
During the follow-up period (1.1.1998 — 31.12.2019), 93 out of 1304 males with Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.212% | 0.481% |
| 5 | 1.422% | 2.848% |
| 10 | 3.576% | 6.989% |
| 15 | 6.823% | 13.087% |
| 20 | 12.109% | 21.146% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED – Other congenital malformations, 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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