Other congenital malformations of limb(s)

Q17_OTHER_CONGEN_MALFO_LIMBS

No definition available.

Endpoint definition

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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 — Q74 Cause of death: ICD-10 — Q74 2 out of 7 registries used, show all original rules.	299
4. Check minimum number of events None	299
5. Include endpoints None	299
6. Filter based on genotype QC (FinnGen only)	299

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q6[5-9]|Q7
Name in latin: Aliae malformationes congenitae membrorum

NAME	Q17_OTHER_CONGEN_MALFO_LIMBS
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q74
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q74
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

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List of similar endpoints to Other congenital malformations of limb(s) based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	4390	2208	2179
Only index persons	3749	1902	1847
Unadjusted period prevalence (%)
Whole population	0.06	0.06	0.06
Only index persons	0.07	0.07	0.07
Median age at first event (years)
Whole population	10.78	11.62	9.91
Only index persons	11.95	12.39	11.49

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	299	207	92
Unadjusted period prevalence (%)	0.06	0.07	0.04
Median age at first event (years)	14.08	13.78	14.76

-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)

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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
261: Matched controls
2610

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q74.1

ICD-10 Finland

Congenital malformation of knee

+∞

68.9

Q74.88

ICD-10 Finland

Other specified congenital malformations of limb(s)

411.2

37.0

Q74.83

ICD-10 Finland

Congenital limb asymmetri, unspecified

+∞

29.8

Q74.9

ICD-10 Finland

Unspecified congenital malformation of limb(s)

+∞

24.3

Q74.81

ICD-10 Finland

Congenital overgrowth of limb(s)

+∞

22.2

NFK20

NOMESCO Finland

Epiphysiodesis of femur

62.7

20.2

Q74.01

ICD-10 Finland

Madelung's deformity

+∞

17.9

Q74.3

ICD-10 Finland

Arthrogryposis multiplex congenita

+∞

16.8

NGU20

NOMESCO Finland

Removal of internal fixation device from knee or lower leg

18.7

15.9

Q74.82

ICD-10 Finland

Congenital undergrowth of limb(s)

+∞

15.8

Z31.5

ICD-10 Finland

Genetic counselling

5.2

12.8

Q74.80

ICD-10 Finland

Congenital brachydactyli

+∞

12.6

NFK30

NOMESCO Finland

Angulation, rotation or displacement osteotomy of femur

+∞

12.6

Q74.28

ICD-10 Finland

Other congenital malformations of lower limb(s), including pelvic girdle

+∞

11.5

NGK20

NOMESCO Finland

Epiphysiodesis of knee or lower leg

125.3

11.5

L82

ICPC

Congenital anomaly musculoskeletal

+∞

10.5

Z50.9

ICD-10 Finland

Care involving use of rehabilitation procedure, unspecified

9.7

10.2

ZXA10

NOMESCO Finland

Bilateral

3.3

9.5

185

NFU20

NOMESCO Finland

Removal of internal fixation device from femur

18.4

9.5

Q68.8

ICD-10 Finland

Other specified congenital musculoskeletal deformities

103.6

9.5

Q74.00

ICD-10 Finland

Accessory carpal bones

+∞

9.4

Q66.0

ICD-10 Finland

Talipes equinovarus

+∞

9.4

NGK30

NOMESCO Finland

Angulation, rotation or displacement osteotomy of knee or lower leg

38.1

9.1

Z01.0

ICD-10 Finland

Examination of eyes and vision

2.8

8.4

253

NJ2MA

NOMESCO Finland

Measurement of mechanical axis of lower leg with X-ray

8.6

8.2

M25.5

ICD-10 Finland

Pain in joint

2.4

8.2

390

R4110

NOMESCO Finland

Physiotherapy

2.4

8.0

376

Z46.8

ICD-10 Finland

Fitting and adjustment of other specified devices

12.4

7.7

SPAT1229

SPAT

Assessment of need for aid

7.2

7.4

ZXE10

NOMESCO Finland

More than one and less than three hours

2.2

7.3

544

ZXD10

NOMESCO Finland

Scheduled procedure

2.1

6.8

584

M17.1

ICD-10 Finland

Other primary gonarthrosis

4.1

6.7

M21.7

ICD-10 Finland

Unequal limb length (acquired)

14.8

6.4

9165

FHL

Removal of osteosynthesis material

18.6

6.3

Q74.02

ICD-10 Finland

Cleidocranial dysostosis

+∞

6.3

Q74.20

ICD-10 Finland

Congenital fusion of sacroiliac joint

+∞

6.3

Q74.2

ICD-10 Finland

Other congenital malformations of lower limb(s), including pelvic girdle

+∞

6.3

TNH36

NOMESCO Finland

Custom molded cast of pes equinovarus

+∞

6.3

Q68.1

ICD-10 Finland

Congenital deformity of hand

+∞

6.3

75598

ICD-8 Finland

Other congenital anomalies of limbs, Alia definita

+∞

6.3

9472

FHL

Soft tissue biopsy (muscle, tumor) under general anesthesia or operating room

+∞

6.3

M21.0

ICD-10 Finland

Valgus deformity, not elsewhere classified

27.4

6.3

Z03.9

ICD-10 Finland

Observation for suspected disease or condition, unspecified

2.4

6.1

264

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_LIMBS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_LIMBS.

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

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Index endpoint: Q17_OTHER_CONGEN_MALFO_LIMBS – Other congenital malformations of limb(s)

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

Loading data

Other congenital malformations of limb(s)

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints