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308490002: Pathological developmental process (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
451847013 Pathological developmental process en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pathological developmental process Is a Pathological process true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self-injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, congenital, non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypertaurodontism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Tracheo-esophageal fistula without atresia of esophagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Tracheo-esophageal fistula without atresia of esophagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital aneurysm of precerebral artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of pulmonary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital aneurysm of cerebral artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral multicystic renal dysplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melnick-Needles syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Lumbar meningomyelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Lumbar meningomyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Lumbar meningomyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Myelomeningocele that occurs in the region L4 to L5. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical myelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical myelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Lateral meningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital laryngocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital meningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital spinal hydromeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Myelomeningocele that occurs in the region L1 to L3. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lumbar myelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lumbar myelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Thoracic meningomyelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Thoracic meningomyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Thoracic meningomyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Cervical meningomyelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Cervical meningomyelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical meningomyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare frontonasal dysplasia malformation syndrome characterised by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare frontonasal dysplasia malformation syndrome characterised by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare frontonasal dysplasia malformation syndrome characterised by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Potter's facies Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
luxation développementale d'une articulation de la région de l'épaule Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital single renal cyst (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital aneurysm of anterior communicating artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital aneurysm of aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital peripheral aneurysm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital aneurysm of systemic artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital arterial aneurysm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital renal artery aneurysm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Major aortopulmonary collateral artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bronchopulmonary collateral artery Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Posterior fossa arachnoid cyst (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Amelogenesis imperfecta, hypoplastic type with microdontia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital vesicoureterorenal reflux, bilateral Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital vesicoureterorenal reflux, bilateral Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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