58371004: Congenital dilatation (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

97003018 Congenital dilatation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

797096013 Congenital dilatation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dilatation	Is a	Congenital cavitation	false	Inferred relationship	Some
Congenital dilatation	Is a	Dilatation	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital dilatation of stomach	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Congenital dilatation of lobar intrahepatic bile duct	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Congenital dilatation of ductus arteriosus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Congenital dilatation of carotid artery	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Congenital dilatation of subclavian artery	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Congenital dilatation of inferior vena cava	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Congenital cystic bronchiectasis	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Congenital obstructive megaureter (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Congenital megaduodenum (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Giant esophagus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Mowat-Wilson syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	4
Megacystis-megaureter syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Congenital dilatation of esophagus (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Congenital dilatation of trachea	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Congenital dilatation of colon	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Megalourethra	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Long segment Hirschsprung's disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	5
Short segment Hirschsprung's disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	5
Congenital aganglionic megacolon	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Total intestinal aganglionosis	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Mowat-Wilson syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Aganglionosis of Auerbach's plexus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Congenital hydrocephalus caused by toxoplasmosis	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	5
Hydromyelocele with hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	7
Myelocele with hydrocephalus (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Dandy-Walker syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Congenital hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	4
Rachischisis with hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Spina bifida with hydrocephalus of late onset	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Dandy-Walker syndrome with spina bifida	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Congenital hydronephrosis	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	5
Congenital hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Megalourethra	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Congenital dilatation of renal pelvis	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	6
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Congenital hydronephrosis	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
A rare non-syndromic urogenital tract malformation characterized by a dilated ureter and normal bladder and bladder outlet. It may be obstructed, refluxing or unobstructed and not refluxing.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Congenital dilatation of ureter (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	12
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	10
Bilateral congenital primary hydronephrosis (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	5
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	5
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	7
Congenital dilatation of aortic root (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
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.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	6
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.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	4
A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
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.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	8
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	8
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	8
A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	4
Okamoto syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	7
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	12
Long segment Hirschsprung's disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Short segment Hirschsprung's disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Congenital aganglionic megacolon	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Total intestinal aganglionosis	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Hirschsprung disease of rectosigmoid region (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	7
Extensive aganglionosis Hirschsprung disease (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	5
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	7
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	9
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	9
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	8
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	9
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	13
Congenital obstructive hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Secondary megacolon - congenital	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Hydromyelocele with hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Congenital cystic bronchiectasis	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	4
Long segment Hirschsprung's disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Spina bifida with hydrocephalus of late onset	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Congenital obstructive megaureter (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Short segment Hirschsprung's disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Hirschsprung disease of rectosigmoid region (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Okamoto syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Congenital hydrocephalus caused by toxoplasmosis	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Bilateral congenital primary hydronephrosis (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Choledochocele (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	2
A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Rachischisis with hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Megacystis-megaureter syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	3
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.	Associated morphology	False	Congenital dilatation	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
97003018	Congenital dilatation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
797096013	Congenital dilatation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core