| 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 |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital luminal atresia of aortic arch between subclavian artery and common carotid artery (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of aqueduct of Sylvius |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of larynx and trachea |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of larynx and trachea |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Small intestine atresia and stenosis (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of hepatic ducts (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of neck of urinary bladder (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intrahepatic biliary atresia |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of urethra |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital imperforate cervix |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of vagina (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Double aortic arch with left arch dominant and atresia of right arch (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Lowe Kohn Cohen syndrome |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Atresia of oesophagus with oesophagobronchial fistula |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital atresia and stenosis of ureter (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Atresia of oesophagus without tracheooesophageal fistula |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ulceration of umbilical cord and atresia of intestine syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
1 |
| Long gap atresia of esophagus (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of jejunum type IIIb (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of jejunum type IV (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| STAR syndrome |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Tetralogy of Fallot with atresia of pulmonary valve |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pulmonary atresia with absent pulmonary artery |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Biliary atresia with splenic malformation syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of right external ear (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
1 |
| Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of left external ear (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Right ventricular outflow tract atresia (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pulmonary atresia with ventricular septal defect (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pulmonary trunk atresia |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Double aortic arch with right arch dominant and atresia of left arch (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of left superior vena cava (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of systemic vein (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of pulmonary trunk with absent left pulmonary artery (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of pulmonary trunk with absent right pulmonary artery (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pulmonary atresia with ventricular septal defect of Fallot type |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Muscular subvalvar atresia of aorta (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Persisting fifth aortic arch with atresia of fourth arch (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Imperforate lacrimal punctum |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of penile urethra (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of bilateral external ears (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of bilateral external ears (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital atresia of ostium of coronary artery (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Correction of atresia of rectum (procedure) |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of bilateral anterior nares |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of bilateral anterior nares |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Bilateral choanal atresia |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microperforate hymen |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Imperforate hymen |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of intestine at multiple levels |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of ileum type I |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of ileum type II (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of ileum type IIIa (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of jejunum type I (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
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 |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atresia of jejunum type IIIa (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
2 |
| Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Decompression of imperforate anus |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of inferior vena cava without azygos continuation (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Repair of choanal atresia by intranasal approach |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Repair of choanal atresia by transpalatal approach (procedure) |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Repair of choanal atresia (procedure) |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Congenital atresia of anterior naris (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of left anterior naris (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital atresia of right anterior naris (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum |
Direct morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) |
Associated morphology |
True |
Atresia (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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