56457002: Congenital atresia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital atresia	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atresia	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atresia	Is a	Impatent structure (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atresia	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital atresia of vas deferens	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atresia of fallopian tube	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atresia of osseous meatus of middle ear	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pulmonary atresia with absent pulmonary artery	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pulmonary atresia with ventricular septal defect (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetralogy of Fallot with atresia of pulmonary valve	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pulmonary atresia with confluent pulmonary arteries	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pulmonary atresia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of penile urethra (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Solitary aortic trunk with pulmonary atresia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tetralogy of Fallot with atresia of pulmonary valve	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acquired pulmonary atresia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pulmonary atresia with confluent pulmonary arteries	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pulmonary atresia with ventricular septal defect of Fallot type	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Imperforate lacrimal punctum	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital tricuspid atresia and stenosis	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Imperforate anus	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Atresia of neck of urinary bladder (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of anterior urethra	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Imperforate lacrimal punctum	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atretic right superior vena cava	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Left ventricular outflow tract atresia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ascending aortic atresia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intrahepatic biliary atresia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of urethra	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persisting fifth aortic arch with atresia of fourth arch (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Solitary aortic trunk with pulmonary atresia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Pulmonary atresia with ventricular septal defect (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pulmonary atresia with ventricular septal defect of Fallot type	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bronchial atresia with segmental pulmonary emphysema (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Biliary atresia with splenic malformation syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tetralogy of Fallot with atresia of pulmonary valve	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ulceration of umbilical cord and atresia of intestine syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital atresia of right external ear (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atresia and stenosis of ureter (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atresia of oesophagus without tracheooesophageal fistula	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atresia and stenosis of ureter (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Intractable diarrhea with choanal atresia and eye anomaly syndrome	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	7
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Long gap atresia of esophagus (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of jejunum type IIIb (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of jejunum type IV (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
STAR syndrome	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
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.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital atresia of left external ear (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Lowe Kohn Cohen syndrome	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Choanal atresia with radial ray hypoplasia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Imperforate oropharynx, costovertebral anomalies syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Intractable diarrhea with choanal atresia and eye anomaly syndrome	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of larynx and trachea	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ulceration of umbilical cord and atresia of intestine syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence, atresia and stenosis of small intestine	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of pulmonary artery with septal defect (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oesophageal atresia with tracheo-oesophageal fistula	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Biliary atresia with splenic malformation syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
STAR syndrome	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Solitary aortic trunk with pulmonary atresia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atresia of bilateral external ears (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital atresia of bilateral external ears (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An extremely rare developmental defect during embryogenesis malformation syndrome with characteristics of 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.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital atresia of ostium of coronary artery (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Atresia of oesophagus with oesophagobronchial fistula	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Atresia of mitral valve with absent atrioventricular connection (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tricuspid atresia with absent right atrioventricular connection	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mitral atresia with imperforate mitral valve	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of ileum type I	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of ileum type II (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of ileum type IIIa (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of jejunum type I (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A congenital developmental abnormality of the jejunum where there is a gap in the intestine resulting in obstruction of the jejunum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length.	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atresia of jejunum type IIIa (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atresia of bilateral anterior nares	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
93882013	Congenital atresia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93886011	Congenital imperforation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
794971019	Congenital atresia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93882013	Congenital atresia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
93882013	Congenital atresia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93886011	Congenital imperforation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
93886011	Congenital imperforation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93887019	Atresia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
93887019	Atresia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
794971019	Congenital atresia (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
794971019	Congenital atresia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core