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204712000: Anal atresia (disorder)

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

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Anal finding\Disorder of anus (disorder)\Congenital anomaly of anus\Anal atresia
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\Anal atresia
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\Anal atresia
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia
\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 anomaly of anus\Anal atresia
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\Anal atresia
\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 anomaly of anus\Anal atresia
\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 anomaly of anus\Anal atresia
\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 anomaly of anus\Anal atresia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anal atresia	Is a	Low anorectal malformation	false	Inferred relationship	Some
Anal atresia	Finding site	Anal structure	true	Inferred relationship	Some	1
Anal atresia	Finding site	Rectum structure	false	Inferred relationship	Some	1
Anal atresia	Occurrence	Congenital	false	Inferred relationship	Some
Anal atresia	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some	1
Anal atresia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anal atresia	Occurrence	Congenital	false	Inferred relationship	Some
Anal atresia	Is a	Atresia of large intestine (disorder)	false	Inferred relationship	Some
Anal atresia	Is a	Congenital anomaly of anus	false	Inferred relationship	Some
Anal atresia	Associated morphology	Congenital atresia	false	Inferred relationship	Some	1
Anal atresia	Finding site	Anal structure	false	Inferred relationship	Some	1
Anal atresia	Associated morphology	Congenital atresia	false	Inferred relationship	Some	1
Anal atresia	Is a	Congenital malformation	false	Inferred relationship	Some
Anal atresia	Is a	Disorder of anus (disorder)	false	Inferred relationship	Some
Anal atresia	Is a	Congenital anomaly of perineum	false	Inferred relationship	Some
Anal atresia	Finding site	Structure of large intestine (body structure)	false	Inferred relationship	Some
Anal atresia	Is a	Congenital anomaly of anus	true	Inferred relationship	Some
Anal atresia	Occurrence	Congenital	false	Inferred relationship	Some	2
Anal atresia	Associated morphology	Congenital atresia	false	Inferred relationship	Some	2
Anal atresia	Finding site	Anal structure	false	Inferred relationship	Some	2
Anal atresia	Occurrence	Congenital	true	Inferred relationship	Some	1
Anal atresia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Anal atresia	Associated morphology	Atresia (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Atresia of anus with fistula	Is a	True	Anal atresia	Inferred relationship	Some
Imperforate anus	Is a	False	Anal atresia	Inferred relationship	Some
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	Is a	True	Anal atresia	Inferred relationship	Some
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.	Is a	True	Anal atresia	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	True	Anal atresia	Inferred relationship	Some
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.	Is a	True	Anal atresia	Inferred relationship	Some
A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.	Is a	True	Anal atresia	Inferred relationship	Some
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.	Is a	True	Anal atresia	Inferred relationship	Some
Decompression of imperforate anus	Has focus	True	Anal atresia	Inferred relationship	Some	2
Imperforate anus repair	Has focus	True	Anal atresia	Inferred relationship	Some	2

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
313905016	Anal atresia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
313906015	Aproctia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
313907012	Atresia ani	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
313908019	Congenital atresia of anus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
589976010	Anal atresia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4590324014	Imperforate anus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4590325010	Congenital imperforate anus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
928851000195110	atresia anale	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4881561000241111	atrésie anale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module