| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital luminal atresia of aortic arch distal to subclavian artery (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital luminal atresia of aortic arch between subclavian artery and common carotid artery (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital luminal atresia of aortic arch between left common carotid artery and right common carotid artery (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of aqueduct of Sylvius |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of larynx and trachea |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of larynx and trachea |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Small intestine atresia and stenosis |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of hepatic ducts |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of neck of urinary bladder |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Intrahepatic biliary atresia (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of urethra |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital imperforate cervix (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of vagina (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Double aortic arch with left arch dominant and atresia of right arch (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Atresia of oesophagus with oesophagobronchial fistula |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Congenital atresia and stenosis of ureter (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Atresia of esophagus without tracheoesophageal fistula (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Long gap atresia of esophagus (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetralogy of Fallot with atresia of pulmonary valve (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Pulmonary atresia with absent pulmonary artery |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of right external ear (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of left external ear (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Right ventricular outflow tract atresia |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Pulmonary atresia with ventricular septal defect |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Pulmonary trunk atresia |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Double aortic arch with right arch dominant and atresia of left arch (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of left superior vena cava (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of systemic vein (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of pulmonary trunk with absent left pulmonary artery (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of pulmonary trunk with absent right pulmonary artery (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Pulmonary atresia with ventricular septal defect of Fallot type (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Muscular subvalvar atresia of aorta (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Persisting fifth aortic arch with atresia of fourth arch (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Imperforate lacrimal punctum |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of penile urethra (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of bilateral external ears (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of bilateral external ears (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Congenital atresia of coronary ostium |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Correction of atresia of rectum |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of bilateral anterior nares (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of bilateral anterior nares (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Bilateral choanal atresia |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microperforate hymen |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Imperforate hymen |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of intestine at multiple levels |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Atresia of jejunum type I (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth). |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| Decompression of imperforate anus |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present. |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Repair of choanal atresia by intranasal approach |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Repair of choanal atresia by transpalatal approach (procedure) |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Repair of choanal atresia (procedure) |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| Congenital atresia of anterior naris (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of left anterior naris (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital atresia of right anterior naris (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
FHIR