1264114007: Congenital non-syndromic anorectal malformation (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital non-syndromic anorectal malformation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5171336016 Congenital non-syndromic anorectal malformation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5171337013 Non-syndromic anorectal malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5171338015 Non-syndromic ARM (anorectal malformation) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5171341012 Congenital non-syndromic anorectal malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5171339011 A wide spectrum of malformations involving the distal anus and rectum along with urinary and genital tracts, which can affect male or female. Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects in approximately 50% of patients and spinal anomalies. The aetiology remains unclear and is likely multifactorial. Familial cases have been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5171340013 A wide spectrum of malformations involving the distal anus and rectum along with urinary and genital tracts, which can affect male or female. Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects in approximately 50% of patients and spinal anomalies. The etiology remains unclear and is likely multifactorial. Familial cases have been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital non-syndromic anorectal malformation (disorder)	Is a	Anorectal anomaly	true	Inferred relationship	Some
Congenital non-syndromic anorectal malformation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital non-syndromic anorectal malformation (disorder)	Finding site	Anorectal structure	true	Inferred relationship	Some	1
Congenital non-syndromic anorectal malformation (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital non-syndromic anorectal malformation (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
5171336016	Congenital non-syndromic anorectal malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171337013	Non-syndromic anorectal malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171338015	Non-syndromic ARM (anorectal malformation)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5171341012	Congenital non-syndromic anorectal malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171339011	A wide spectrum of malformations involving the distal anus and rectum along with urinary and genital tracts, which can affect male or female. Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects in approximately 50% of patients and spinal anomalies. The aetiology remains unclear and is likely multifactorial. Familial cases have been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5171340013	A wide spectrum of malformations involving the distal anus and rectum along with urinary and genital tracts, which can affect male or female. Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects in approximately 50% of patients and spinal anomalies. The etiology remains unclear and is likely multifactorial. Familial cases have been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core