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
kongenit atresi	Is a	kongenit anomali	false	Inferred relationship	Some
kongenit atresi	Is a	Kongenit malformation	false	Inferred relationship	Some
kongenit atresi	Is a	Impatent structure (morphologic abnormality)	false	Inferred relationship	Some
kongenit atresi	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital atresia of vas deferens	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Congenital atresia of fallopian tube	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Congenital atresia of osseous meatus of middle ear	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Pulmonary atresia with absent pulmonary artery	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Pulmonary atresia with ventricular septal defect	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Tetralogy of Fallot with atresia of pulmonary valve (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Pulmonary atresia with confluent pulmonary arteries	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Pulmonary atresia	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Atresia of penile urethra (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Solitary aortic trunk with pulmonary atresia	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Tetralogy of Fallot with atresia of pulmonary valve (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Acquired pulmonary atresia	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Pulmonary atresia with confluent pulmonary arteries	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Pulmonary atresia with ventricular septal defect of Fallot type (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Imperforate lacrimal punctum	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Congenital tricuspid atresia and stenosis	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Imperforeret anus	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Atresia of neck of urinary bladder	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Atresia of anterior urethra	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Imperforate lacrimal punctum	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Atretic right superior vena cava	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Left ventricular outflow tract atresia (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Ascending aortic atresia	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Intrahepatic biliary atresia (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Atresia of urethra	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Persisting fifth aortic arch with atresia of fourth arch (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Solitary aortic trunk with pulmonary atresia	Associated morphology	False	kongenit atresi	Inferred relationship	Some	4
Pulmonary atresia with ventricular septal defect	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Pulmonary atresia with ventricular septal defect of Fallot type (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Bronchial atresia with segmental pulmonary emphysema	Associated morphology	False	kongenit atresi	Inferred relationship	Some	8
Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Tetralogy of Fallot with atresia of pulmonary valve (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	4
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.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Congenital atresia of right external ear (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Congenital atresia and stenosis of ureter (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Atresia of esophagus without tracheoesophageal fistula (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Congenital atresia and stenosis of ureter (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	4
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	3
Long gap atresia of esophagus (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect associated with abnormal mesenteric arterial supply and a distal intestinal segment spiral deformity, frequently described as having an apple peel appearance; the intestine is reduced in length.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
A congenital developmental abnormality of the jejunum where there are multiple gaps in the intestine due to a mesenteric defect with elements of type I, type II and type III atresia creating a morphological appearance of a string of sausages; the intestine is always reduced in length.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
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.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	4
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	6
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	2
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Congenital atresia of left external ear (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery	Associated morphology	False	kongenit atresi	Inferred relationship	Some	8
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.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	1
Atresia of larynx and trachea	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	1
Congenital absence, atresia and stenosis of small intestine	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
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.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Atresia of pulmonary artery with septal defect	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Oesophageal atresia with tracheo-oesophageal fistula	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
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.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Solitary aortic trunk with pulmonary atresia	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Associated morphology	False	kongenit atresi	Inferred relationship	Some	4
A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Congenital atresia of bilateral external ears (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Congenital atresia of bilateral external ears (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Congenital atresia of coronary ostium	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Atresia of oesophagus with oesophagobronchial fistula	Associated morphology	False	kongenit atresi	Inferred relationship	Some	3
Atresia of mitral valve with absent atrioventricular connection	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Tricuspid atresia with absent right atrioventricular connection	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Mitral atresia with imperforate mitral valve	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
A congenital developmental abnormality of the ileum where there is a septum occluding the lumen resulting in obstruction of the ileum with proximal intestinal dilation in continuity with a collapsed distal intestine; the intestine develops to a normal length.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
A congenital developmental abnormality of the ileum where there is a gap in the intestine resulting in obstruction of the ileum; 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	kongenit atresi	Inferred relationship	Some	1
A congenital developmental abnormality of the ileum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the ileum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Atresia of jejunum type I (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	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	kongenit atresi	Inferred relationship	Some	1
A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the jejunum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Congenital atresia of bilateral anterior nares (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1

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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
3027181000005117	kongenit atresi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)