| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Fallot's trilogy |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| dégénérescence myxomateuse d'une valve cardiaque |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Ventricular septal defect |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Premature closure of foramen ovale |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Endocardial fibroelastosis unassociated with other cardiac abnormalities. |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Cor triloculare biventriculare (disorder) |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Right ventricular outflow tract atresia |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Left ventricular outflow tract atresia |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Congenital septal defect of heart |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Congenital right ventricular aneurysm |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Aorta to right ventricle tunnel |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Anterior deviation of infundibular septum of Fallot type (disorder) |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Atresia of pulmonary artery with septal defect |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Andersen Tawil syndrome (disorder) |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Congenital pulmonary venous atrium |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Congenital systemic venous atrium |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Family history of complex congenital heart disease (situation) |
Associated finding |
True |
Congenital heart disease |
Inferred relationship |
Some |
1 |
| Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (cleft). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A very rare syndrome described in three siblings of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| An extremely rare polymalformative syndrome. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Bosley-Salih-Alorainy syndrome (BSAS) is characterised by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Oro-facial digital syndrome type 12 |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Oro-facial digital syndrome type 13 |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Congenital anomaly of cardiac chamber (disorder) |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder) |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Congenital malrotation of heart |
Is a |
False |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Formation of conduit of right ventricle and pulmonary artery in repair of pulmonary artery atresia in truncus arteriosus |
Has focus |
False |
Congenital heart disease |
Inferred relationship |
Some |
7 |
| Creation of conduit of right ventricle and pulmonary artery in repair of pulmonary artery atresia |
Has focus |
False |
Congenital heart disease |
Inferred relationship |
Some |
4 |
| Correction of congenital deformity of heart (procedure) |
Has focus |
True |
Congenital heart disease |
Inferred relationship |
Some |
2 |
| Closure of coronary sinus atrial septal defect |
Has focus |
True |
Congenital heart disease |
Inferred relationship |
Some |
3 |
| Patching of coronary sinus atrial septal defect |
Has focus |
False |
Congenital heart disease |
Inferred relationship |
Some |
3 |
| Williams syndrome (disorder) |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Disorder of ascending aorta due to conotruncal malformation |
Due to |
True |
Congenital heart disease |
Inferred relationship |
Some |
2 |
| Acquired abnormality of aorta due to congenital heart anomaly |
Due to |
True |
Congenital heart disease |
Inferred relationship |
Some |
2 |
| Congenital endocardial fibroelastosis (disorder) |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Correction of congenital cardiovascular deformity (procedure) |
Has focus |
True |
Congenital heart disease |
Inferred relationship |
Some |
2 |
| Percutaneous transluminal ablation of congenital heart malformation |
Has focus |
True |
Congenital heart disease |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Aneurysm of aorta due to congenital heart disease (disorder) |
Due to |
True |
Congenital heart disease |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Secondary hypertension due to congenital heart disorder (disorder) |
Due to |
True |
Congenital heart disease |
Inferred relationship |
Some |
3 |
| Hypercyanotic spell due to congenital heart disease |
Due to |
True |
Congenital heart disease |
Inferred relationship |
Some |
4 |
| A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. |
Is a |
True |
Congenital heart disease |
Inferred relationship |
Some |
|
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