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Other acquired deformities of musculoskeletal system and connective tissue

DOID EFO Endpoint Browser PheWeb

M13_DEFORMACQ

musculoskeletal system disease: A disease involving the musculoskeletal system. [database_cross_reference: MONDO:DesignPattern]

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 — M95
  • Hospital discharge: ICD-9 — 738
  • Hospital discharge: ICD-8 — 7380[8-9]
  • Cause of death: ICD-10 — M95
  • Cause of death: ICD-9 — 738
  • Cause of death: ICD-8 — 7380[8-9]

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

1611

4. Check minimum number of events

None

1611

5. Include endpoints

None

1611

6. Filter based on genotype QC (FinnGen only)

1520

Control definitions (FinnGen only)

Control exclude M13_MUSCULOSKELEOTH

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 M95-M99
Name in latin Aliae deformitates acquisitae systematis musculosceletalis et textus connectivi

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 14910 6894 7861
Only index persons 13114 6054 7060
Unadjusted period prevalence (%)
Whole population 0.21 0.20 0.22
Only index persons 0.25 0.22 0.27
Median age at first event (years)
Whole population 38.29 40.56 36.21
Only index persons 36.64 38.52 35.04

-FinnGen-

Key figures

All Female Male
Number of individuals 1520 776 744
Unadjusted period prevalence (%) 0.34 0.30 0.37
Median age at first event (years) 39.35 37.71 41.06

-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

Mortality – FinRegistry

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Association

Association between endpoint M13_DEFORMACQ and mortality.

Females

Parameter HR [95% CI] p-value
M13_DEFORMACQ 1.497 [1.27, 1.77] < 0.001
Birth year 0.992 [0.98, 1.0] 0.09

During the follow-up period (1.1.1998 — 31.12.2019), 190 out of 2352 females with M13_DEFORMACQ died.

Males

Parameter HR [95% CI] p-value
M13_DEFORMACQ 1.264 [1.1, 1.45] < 0.001
Birth year 0.988 [0.98, 1.0] 0.018

During the follow-up period (1.1.1998 — 31.12.2019), 368 out of 4323 males with M13_DEFORMACQ died.

Mortality risk

Mortality risk for people of age

years, who have M13_DEFORMACQ.

N-year risk Females Males
1 0.096% 0.246%
5 0.765% 1.58%
10 1.988% 3.958%
15 3.955% 7.455%
20 7.11% 12.602%

Relationships between endpoints

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Index endpoint: M13_DEFORMACQ – Other acquired deformities of musculoskeletal system and connective tissue

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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