Last updated: 2022-06-13

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Knit directory: codemapper_notes/

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library(tidyverse)
library(reactable)
library(readxl)
library(crosstalk)
library(targets)
library(codemapper)
library(flextable)

tar_load(ALL_LKPS_MAPS_DB)
con <- DBI::dbConnect(RSQLite::SQLite(), ALL_LKPS_MAPS_DB)
all_lkps_maps <- ukbwranglr::db_tables_to_list(con)

# caliber codes
tar_load(caliber_codes)

caliber_codes_icd10 <- caliber_codes %>% 
  filter(code_type == "icd10") %>% 
  mutate(icd10_3char = str_sub(code,
                               start = 1L,
                               end = 3L))

# self-reported UKB non-cancer illnesses
coding6 <- tar_read(ukb_codings) %>% 
  filter(Coding == "6")

coding609 <- tar_read(ukb_codings) %>% 
  filter(Coding == "609") %>% 
  rename(icd10 = Meaning) %>% 
  left_join(coding6[, -1],
            by =  "Value")

# merge UKB and CALIBER
caliber_codes_coding609 <- coding609 %>% 
  full_join(caliber_codes_icd10,
            by = c("icd10" = "icd10_3char")) %>% 
  
  # calculate number of CALIBER diseases per UKB code
  group_by(Value) %>% 
  mutate(n_caliber_mappings_per_ukb = ifelse(!is.na(Value),
                       yes = sum(!is.na(unique(disease))),
                       no = NA_integer_)) %>% 
  ungroup() %>% 
  
   # calculate number of UKB codes per CALIBER disease
  group_by(disease) %>% 
  mutate(n_ukb_per_caliber_mappings = ifelse(!is.na(disease),
                       yes = sum(!is.na(unique(Value))),
                       no = NA_integer_)) %>% 
  ungroup() %>% 
  
  # cosmetic
  arrange(desc(n_caliber_mappings_per_ukb)) %>% 
  select(-author)

Overview

Aim: to assign UKB self-reported non-cancer illness codes to CALIBER conditions.

Approach:

  • Filter CALIBER codelists for ICD10 codes only, then reduce to these to 3 characters ony
  • Merge the 3-character CALIEBR ICD10 codes with the UKB self-reported non-cancer illness-to-ICD10 map (Coding 609)
  • Manually review any self-reported UKB codes that either (i) do not match to any CALIBER conditions, or (ii) match >1 CALIBER condition

UKB self-reported non-cancer illness lookup table

caliber_codes_coding609 %>% 
  select(-Coding,
         data_coding_6 = Value,
         icd10_3char = icd10,
         ukb_meaning = Meaning) %>% 
  reactable(filterable = TRUE,
            searchable = TRUE,
            paginationType = "jump",
            showPageSizeOptions = TRUE,
            resizable = TRUE,
            pageSizeOptions = c(10, 25, 50, 100, 200, 300, 350))

Mapping summary

By CALIBER disease

mapping_status_by_caliber_disease <- caliber_codes_coding609 %>% 
  filter(!is.na(disease)) %>% 
  distinct(disease,
           Value,
           .keep_all = TRUE) %>% 
  group_by(`CALIBER disease` = disease) %>% 
  summarise(`N UKB self-reported codes mapped` = sum(!is.na(unique(Value))))
  • N mapped CALIBER diseases: 186 (out of total 301)
  • N CALIBER diseases with >1 mapped UKB self-reported codes: 78
  • N CALIBER diseases with no mapped UKB self-reported codes: 115
mapping_status_by_caliber_disease %>% 
  reactable(filterable = TRUE,
            searchable = TRUE,
            paginationType = "jump",
            showPageSizeOptions = TRUE,
            pageSizeOptions = c(10, 25, 50, 100, 200, 300, 350))

By UKB self-reported code

mapping_status_by_ukb_self_report_code <- caliber_codes_coding609 %>% 
  filter(!is.na(Value) & !is.na(Meaning)) %>% 
  distinct(Value,
           Meaning,
           disease,
           .keep_all = TRUE) %>% 
  group_by(`UKB self-reported non-cancer illness` = Meaning) %>% 
  summarise(ukb_code = head(Value, 1),
            `N CALIBER diseases mapped` = sum(!is.na(unique(disease))))
  • N mapped UKB self-reported non-cancer illnesses: 258 (out of total 333)
  • N UKB self-reported non-cancer illnesses that map to >1 CALIBER diseases: 100
  • N UKB self-reported non-cancer illnesses that do not map to any CALIBER diseases: 75

Note that self-reported ‘myasthenia gravis` is coded as both ’1260’ and ‘1437’ by UKB (as stated in the online data dictionary).

mapping_status_by_ukb_self_report_code %>% 
  reactable(filterable = TRUE,
            searchable = TRUE,
            paginationType = "jump",
            showPageSizeOptions = TRUE,
            pageSizeOptions = c(10, 25, 50, 100, 200, 300, 350))

Manual mapping of UKB self-reported codes to CALIBER diseases

Write csv file for manual mapping

Write a csv file containing UKB self-reported codes that have mapped to a CALIBER disease (via ICD10), and manually review these. The category should always be ‘UKB self-reported’, and the author will be kept as ‘caliber’. Use the UKB-specific codes as these are more specific to UKB i.e. data coding 6 instead of data coding 609.

# write to csv
ukb_self_report_non_cancer_to_caliber_map_unselected <- caliber_codes_coding609 %>% 
  filter(n_caliber_mappings_per_ukb > 0) %>% 
  distinct(disease,
           description = Meaning,
           code = Value) %>% 
  mutate(category = "UKB self-reported",
         code_type = "data_coding_6",
         author = "caliber",
         selected = "") %>% 
  select(all_of(names(caliber_codes)),
         selected) 

ukb_self_report_non_cancer_to_caliber_map_unselected %>% 
  write_csv(here::here(file.path("data_small",
                                 "ukb_self_report_non_cancer_to_caliber_map_raw.csv")))

# NOTE: when manually reviewing, save the csv as a separate file without the '_raw' suffix
# test that `ukb_self_report_non_cancer_to_caliber_map.csv` contains the same mappings as `ukb_self_report_non_cancer_to_caliber_map_raw.csv` (apart from the manuall mapping column) - RAISE ERROR AND HALT KNITTING IF NOT
ukb_self_report_non_cancer_to_caliber_map <- read_csv(here::here(file.path("data_small",
                                                                           "ukb_self_report_non_cancer_to_caliber_map.csv")),
                                                      col_types = readr::cols(.default = "c"))

assertthat::are_equal(
  x = ukb_self_report_non_cancer_to_caliber_map %>% 
    select(-selected) %>% 
    arrange(across(everything())),
  y = ukb_self_report_non_cancer_to_caliber_map_unselected %>% 
    select(-selected) %>% 
    arrange(across(everything())),
  msg = "Manually selected mapping csv does not match 'ukb_self_report_non_cancer_to_caliber_map_raw.csv'. These should be equivalent, with the exception of the 'selected' column. Has the raw version been updated?"
)

# check that only 'Y' or '' are recorded under 'selected' column
assertthat::assert_that(n_distinct(ukb_self_report_non_cancer_to_caliber_map$selected) == 2 &&
             all(unique(ukb_self_report_non_cancer_to_caliber_map$selected) %in% c("Y", NA)),
             msg = "Check 'ukb_self_report_non_cancer_to_caliber_map.csv': this should only contain values 'Y' and '' under column 'selected'")

Review examples of manual mappings

One-to-many

Note that in many cases is is appropriate for a single UKB self-reported code to map to more than one CALIBER disease (i.e. ‘one-to-many’ mapping). For example:

  • Self-reported ‘alcoholic liver disease / alcoholic cirrhosis’
ukb_self_report_non_cancer_to_caliber_map %>% 
  filter(code == "1604") %>% 
  qflextable()
  • Self-reported ‘diabetic eye disease’
ukb_self_report_non_cancer_to_caliber_map %>% 
  filter(code == "1276") %>% 
  qflextable()

Maps to a 3-character ICD10 code that is not included by CALIBER

When a 3-character ICD10 code is listed by CALIBER, this implies that any children codes should also be included in the codelist for that condition. For example, ICD10 ‘E11’ appears under the codelist for ‘Diabetes’, which includes ‘E111 - E119’ (of which ‘E119’, ‘Type 2 diabetes mellitus Without complications’, is the most commonly recorded)1.

These can map directly to a UKB self-reported code in its ICD10 equivalent (e.g. the UKB code for ‘type 2 diabetes’, ‘1223’, maps to ‘E11’ using data coding 609):

caliber_codes %>% 
  filter(disease == "Diabetes") %>% 
  filter(code_type == "icd10") %>% 
  filter(str_detect(code,
                    "^E..$")) %>% 
  qflextable()

In the following example however, while the UKB self-reported code for ‘glaucoma’ (‘1277’) maps to ICD10 H40 using data coding 609, the CALIBER codelist for ‘Glaucoma’ only includes ICD10 codes ‘H401’, ‘H402’ and ‘H409’:2

caliber_codes %>% 
  filter(disease == "Glaucoma") %>% 
  filter(code_type == "icd10") %>% 
  qflextable()

In this case, I think it’s appropriate to map UKB code ‘1277’ to CALIBER disease ‘Glaucoma’:

ukb_self_report_non_cancer_to_caliber_map %>% 
  filter(code == "1277") %>% 
  qflextable()

Questionable mappings

I have mapped self-reported viral conditions to CALIBER disease ‘Viral diseases (excl chronic hepatitis/HIV)’ only. For example:

ukb_self_report_non_cancer_to_caliber_map %>% 
  filter(code == "1568") %>% 
  qflextable()

Arguably, this could also be mapped to ‘Infections of Other or unspecified organs’ too. I chose not to as it looked like this disease was meant to be used for ICD10 codes that did not fit into the remaining diseases listed above that specify an infectious site (e.g. ‘Lower Respiratory Tract infections’, ‘Meningitis’ etc).

Also, I did not map self-reported ‘primary biliary cirrhosis’ to CALIBER disease ‘Liver fibrosis, sclerosis and cirrhosis’:

ukb_self_report_non_cancer_to_caliber_map %>% 
  filter(code == "1506") %>% 
  qflextable()

I think that perhaps this should be mapped, however ICD10 ‘K74.3’ (‘Primary biliary cirrhosis’) is only listed by CALIBER under ‘Autoimmune liver disease’ (and not ‘Liver fibrosis, sclerosis and cirrhosis’).3

Decided not to map

I decided not to map self-reported ‘hepatitis’ to any CALIBER disease, as the CALIBER diseases for hepatitis all describe a specific type of hepatitis:

ukb_self_report_non_cancer_to_caliber_map %>% 
  filter(code == "1155") %>% 
  qflextable()

Also, self-reported ‘bowel / intestinal perforation’:

ukb_self_report_non_cancer_to_caliber_map %>% 
  filter(code == "1600") %>% 
  qflextable()

Also, ‘angina’:4

ukb_self_report_non_cancer_to_caliber_map %>% 
  filter(code == "1074") %>% 
  qflextable()

Manually annotated mapping file

ukb_self_report_non_cancer_to_caliber_map %>% 
  reactable(filterable = TRUE,
            searchable = TRUE,
            paginationType = "jump",
            showPageSizeOptions = TRUE,
            pageSizeOptions = c(10, 25, 50, 100, 200, 300, 350))

sessionInfo()
R version 4.2.0 (2022-04-22)
Platform: x86_64-apple-darwin17.0 (64-bit)
Running under: macOS Big Sur/Monterey 10.16

Matrix products: default
BLAS:   /Library/Frameworks/R.framework/Versions/4.2/Resources/lib/libRblas.0.dylib
LAPACK: /Library/Frameworks/R.framework/Versions/4.2/Resources/lib/libRlapack.dylib

locale:
[1] en_GB.UTF-8/en_GB.UTF-8/en_GB.UTF-8/C/en_GB.UTF-8/en_GB.UTF-8

attached base packages:
[1] stats     graphics  grDevices datasets  utils     methods   base     

other attached packages:
 [1] flextable_0.7.0       codemapper_0.0.0.9001 targets_0.12.0       
 [4] crosstalk_1.2.0       readxl_1.4.0          reactable_0.3.0      
 [7] forcats_0.5.1         stringr_1.4.0         dplyr_1.0.9          
[10] purrr_0.3.4           readr_2.1.2           tidyr_1.2.0          
[13] tibble_3.1.7          ggplot2_3.3.5         tidyverse_1.3.1      
[16] workflowr_1.7.0      

loaded via a namespace (and not attached):
 [1] fs_1.5.2              bit64_4.0.5           lubridate_1.8.0      
 [4] httr_1.4.2            rprojroot_2.0.3       tools_4.2.0          
 [7] backports_1.4.1       bslib_0.3.1           utf8_1.2.2           
[10] R6_2.5.1              DBI_1.1.2             colorspace_2.0-3     
[13] withr_2.5.0           tidyselect_1.1.2      processx_3.5.3       
[16] bit_4.0.4             compiler_4.2.0        git2r_0.30.1         
[19] cli_3.3.0             rvest_1.0.2           xml2_1.3.3           
[22] officer_0.4.2         sass_0.4.1            scales_1.2.0         
[25] callr_3.7.0           systemfonts_1.0.4     digest_0.6.29        
[28] rmarkdown_2.14        base64enc_0.1-3       pkgconfig_2.0.3      
[31] htmltools_0.5.2       dbplyr_2.2.0          fastmap_1.1.0        
[34] highr_0.9             htmlwidgets_1.5.4     rlang_1.0.2          
[37] RSQLite_2.2.14        rstudioapi_0.13       shiny_1.7.1          
[40] jquerylib_0.1.4       generics_0.1.2        jsonlite_1.8.0       
[43] vroom_1.5.7           zip_2.2.0             magrittr_2.0.3       
[46] Rcpp_1.0.8.3          munsell_0.5.0         fansi_1.0.3          
[49] gdtools_0.2.4         lifecycle_1.0.1       stringi_1.7.6        
[52] whisker_0.4           yaml_2.3.5            blob_1.2.3           
[55] grid_4.2.0            parallel_4.2.0        promises_1.2.0.1     
[58] crayon_1.5.1          haven_2.5.0           hms_1.1.1            
[61] knitr_1.39            ps_1.7.0              pillar_1.7.0         
[64] uuid_1.1-0            igraph_1.3.1          base64url_1.4        
[67] codetools_0.2-18      reprex_2.0.1          glue_1.6.2           
[70] evaluate_0.15         getPass_0.2-2         ukbwranglr_0.0.0.9000
[73] data.table_1.14.2     renv_0.13.2           modelr_0.1.8         
[76] vctrs_0.4.1           tzdb_0.3.0            httpuv_1.6.5         
[79] cellranger_1.1.0      gtable_0.3.0          reactR_0.4.4         
[82] assertthat_0.2.1      cachem_1.0.6          xfun_0.30            
[85] mime_0.12             xtable_1.8-4          broom_0.8.0          
[88] later_1.3.0           memoise_2.0.1         ellipsis_0.3.2       
[91] here_1.0.1           

  1. Note that codemapper expands 3 character ICD10 codes to include all children.↩︎

  2. I think this could be improved however - other ‘H40’ ICD10 codes should be included under ‘Glaucoma’, and the categories refined to ‘primary’, ‘secondary’, ‘open angle’, ‘closed angle’ etc.↩︎

  3. Suggest that ideally this should be updated in CALIBER at some point.↩︎

  4. The CALIBER codelist for ‘Stable angina’ includes ICD10 codes ‘I201’ and ‘I208’, which are not specific to stable angina - perhaps this should be updated at some point (e.g. merge ‘Stable angina’ and ‘Unstable angina’ into a single disease category, and create subcategories for ‘stable’, ‘unstable’, ‘unspecified’ or ‘other’ variants).↩︎