Anorectal malformations - Ford

Repository details

Name	Anorectal malformations - Ford
Version	1
id	anorectal_ford_v1
Previous version	NA
Number of files	3
Code list file	anorectal_ford_v1.csv
Restrictions file	anorectal_ford_v1_restrictions.csv
Truncations file	NA
Removals file	anorectal_ford_v1_removals.csv
R script	anorectal_ford_v1.r
Stata do file	Not yet available
Prepared for repo by	Matthew Jay
First check	Matthew Jay - 2024-10-07
Second check	Ania Zylbersztejn - 2025-03-18
Date added	2024-10-07

Background information

Authors	Ford et al
Year	2022
Reference	Ford et al, Arch Dis Child. 2022;107:758-766.
Target phenotype	Anorectal malformations
Dataset	HES APC and mortality
Datafields	diag, opertn
Summary	Anorectal malformations affecting the anus, rectum and genitourinary system. Cases are identified on the basis of: 1. any diagnosis AND any procedure code in HES data in the 1st year of life; OR, 2. a specific diagnosis in ONS mortality data in the 1st year of life; OR, 3. a generic diagnosis in ONS mortality data AND a specific diagnosis in HES data in the 1st year of life. In any event, presence of one of the differential diagnosis codes in the 1st year of life invalidates the above, meaning the records should not be counted as indicating caseness.
Validation	Diagnostic and procedure codes extracted by two paediatric surgeons from previous research using administrative data. One surgeon then reviewed all records during infancy for children with different combinations of codes to develop a coding algorithm. Birth prevalence, sex, birth characteristics and the proportion of deaths in a HES birth cohort were compared with estimates from a registry of anorectal malformation cases notified to the British Association of Paediatric Surgeons Congenital Anomaly Surveillance System by UK paediatric surgical units between 2015 and 2016.
Original purpose	To estimate the birth prevalence of isolated and complex anorectal malformations, maternal risk factors and 5-year mortality.
Groups	Specific or generic (with most OPCS-4 generic codes labelled as stoma creation).
Flags	age_less_than_1 = code must be recorded in the first year of life (i.e., before the first birthday) (applies to all codes). differential_diag = code is not valid if one of the differential diagnosis codes is present (applies to all codes).
Other details	In Ford et al’s original paper, cases were classified as isolated or complex depending on the presence of additional congenital anomaly codes recorded during the first year of life. These are the Q-block codes from Hardelid et al with the exception of the Q-block codes that are included in this list.
Changes from original	Two procedure codes were removed as these are incorrectly labelled as OPCS-4 codes when they are in fact codes in the Clinical Coding & Schedule Development Group’s list, used by private providers.
Changes since first version in repo	NA
Number of codes	41
Codes removed	2
Codes truncated	0

Preview

code	dataset	field	code_type	description	group	flag1	flag2
Q42.0	hes_apc or mortality	diag	icd10	congenital absence atresia and stenosis of rectum with fistula	specific	age_less_than_1	differential_diag
Q42.1	hes_apc or mortality	diag	icd10	congenital absence atresia and stenosis of rectum without fistula	specific	age_less_than_1	differential_diag
Q42.2	hes_apc or mortality	diag	icd10	congenital absence atresia and stenosis of anus with fistula	specific	age_less_than_1	differential_diag
Q42.3	hes_apc or mortality	diag	icd10	congenital absence atresia and stenosis of anus without fistula	specific	age_less_than_1	differential_diag
Q43.5	hes_apc or mortality	diag	icd10	ectopic anus	specific	age_less_than_1	differential_diag
Q43.6	hes_apc or mortality	diag	icd10	congenital fistula of rectum and anus	specific	age_less_than_1	differential_diag
Q43.7	hes_apc or mortality	diag	icd10	persistent cloaca	specific	age_less_than_1	differential_diag
Q52.2	hes_apc or mortality	diag	icd10	congenital rectovaginal fistula	specific	age_less_than_1	differential_diag
K60.4	hes_apc or mortality	diag	icd10	rectal fistula	specific	age_less_than_1	differential_diag
K60.5	hes_apc or mortality	diag	icd10	anorectal fistula	specific	age_less_than_1	differential_diag
K62.4	hes_apc or mortality	diag	icd10	stenosis of anus and rectum	specific	age_less_than_1	differential_diag
N32.1	hes_apc or mortality	diag	icd10	vesicointestinal fistula	specific	age_less_than_1	differential_diag
N36.0	hes_apc or mortality	diag	icd10	urethral fistula	specific	age_less_than_1	differential_diag
N82.3	hes_apc or mortality	diag	icd10	fistula of vagina to large intestine	specific	age_less_than_1	differential_diag
N82.4	hes_apc or mortality	diag	icd10	other female intestinal-genital tract fistulae	specific	age_less_than_1	differential_diag
Q43.8	hes_apc or mortality	diag	icd10	other specified congenital malformations of intestine	generic	age_less_than_1	differential_diag
Q43.9	hes_apc or mortality	diag	icd10	congenital malformation of intestine unspecified	generic	age_less_than_1	differential_diag
H50.4	hes_apc	opertn	opcs4	reanastomosis of rectum to anal canal for correction of congenital atresia of rectum nec	specific	age_less_than_1	differential_diag
H50.1	hes_apc	opertn	opcs4	posterior repair of anal sphincter	specific	age_less_than_1	differential_diag
H50.9	hes_apc	opertn	opcs4	unspecified repair of anus	specific	age_less_than_1	differential_diag
N24.2	hes_apc	opertn	opcs4	operations on skin of male perineum nec	specific	age_less_than_1	differential_diag
N24.8	hes_apc	opertn	opcs4	other specified operations on male perineum	specific	age_less_than_1	differential_diag
N24.9	hes_apc	opertn	opcs4	unspecified operations on male perineum	specific	age_less_than_1	differential_diag
M37.5	hes_apc	opertn	opcs4	repair of fistula of bladder nec	specific	age_less_than_1	differential_diag
M45.9	hes_apc	opertn	opcs4	unspecified diagnostic endoscopic examination of bladder	specific	age_less_than_1	differential_diag
M73.3	hes_apc	opertn	opcs4	closure of fistula of urethra	specific	age_less_than_1	differential_diag
P13.4	hes_apc	opertn	opcs4	closure of fistula of female perineum	specific	age_less_than_1	differential_diag
P13.8	hes_apc	opertn	opcs4	other specified other operations on female perineum	specific	age_less_than_1	differential_diag
P13.9	hes_apc	opertn	opcs4	unspecified other operations on female perineum	specific	age_less_than_1	differential_diag
P25.3	hes_apc	opertn	opcs4	repair of rectovaginal fistula	specific	age_less_than_1	differential_diag
P27.4	hes_apc	opertn	opcs4	endoscopic examination of vagina	specific	age_less_than_1	differential_diag
H56.8	hes_apc	opertn	opcs4	other specified other operations on anus	generic	age_less_than_1	differential_diag
H15.1	hes_apc	opertn	opcs4	loop colostomy	generic_stoma_creation	age_less_than_1	differential_diag
H15.2	hes_apc	opertn	opcs4	end colostomy	generic_stoma_creation	age_less_than_1	differential_diag
H15.8	hes_apc	opertn	opcs4	other specified other exteriorisation of colon	generic_stoma_creation	age_less_than_1	differential_diag
H15.9	hes_apc	opertn	opcs4	unspecified other exteriorisation of colon	generic_stoma_creation	age_less_than_1	differential_diag
H32.1	hes_apc	opertn	opcs4	resiting of colostomy	generic_stoma_creation	age_less_than_1	differential_diag
G74.2	hes_apc	opertn	opcs4	creation of temporary ileostomy	generic_stoma_creation	age_less_than_1	differential_diag
G74.3	hes_apc	opertn	opcs4	creation of defunctioning ileostomy	generic_stoma_creation	age_less_than_1	differential_diag
G74.8	hes_apc	opertn	opcs4	other specified creation of artificial opening into ileum	generic_stoma_creation	age_less_than_1	differential_diag
G74.9	hes_apc	opertn	opcs4	unspecified creation of artificial opening into ileum	generic_stoma_creation	age_less_than_1	differential_diag