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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dilatation	Is a	Congenital cavitation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dilatation	Is a	Dilatation	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital dilatation of stomach	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dilatation of lobar intrahepatic bile duct (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital dilatation of ductus arteriosus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dilatation of carotid artery	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dilatation of subclavian artery	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dilatation of inferior vena cava	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cystic bronchiectasis	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital obstructive megaureter	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital megaduodenum (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Giant esophagus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mowat-Wilson syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Megacystis-megaureter syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital dilatation of esophagus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dilatation of trachea (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dilatation of colon (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalourethra	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Long segment Hirschsprung's disease (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Short segment Hirschsprung's disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital aganglionic megacolon (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Total intestinal aganglionosis (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mowat-Wilson syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aganglionosis of Auerbach's plexus (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hydrocephalus caused by toxoplasmosis	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hydromyelocele with hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Myelocele with hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dandy-Walker syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Rachischisis with hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spina bifida with hydrocephalus of late onset	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dandy-Walker syndrome with spina bifida	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital hydronephrosis (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalourethra	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dilatation of renal pelvis (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	6
Agenesis of cerebellum and hydrocephalus syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterised 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	Existential restriction modifier (core metadata concept)	3
Familial idiopathic dilatation of right atrium	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Caroli disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hydronephrosis (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital primary megaureter (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dilatation of ureter (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
L1 syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Pettigrew syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	10
Bilateral congenital primary hydronephrosis (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Capra DeMarco syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Congenital dilatation of aortic root (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare multiple congenital anomalies syndrome characterised 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	Existential restriction modifier (core metadata concept)	3
Hydrocephalus with obesity and hypogonadism syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	8
Hirschsprung disease with deafness and polydactyly syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Goldberg Shprintzen megacolon syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
syndrome d'Okamoto	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	12
Long segment Hirschsprung's disease (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Short segment Hirschsprung's disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	2
Congenital aganglionic megacolon (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Total intestinal aganglionosis (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hirschsprung disease of rectosigmoid region	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Extensive aganglionosis Hirschsprung disease (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Haddad syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Hirschsprung disease with type D brachydactyly syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Hydrocephalus, tall stature, joint laxity syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	9
A rare multiple congenital anomalies/dysmorphic syndrome characterised 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	Existential restriction modifier (core metadata concept)	13
Congenital obstructive hydrocephalus (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial thoracic aortic aneurysm and aortic dissection	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Secondary megacolon - congenital	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectasia of left atrial appendage	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectasia of right atrial appendage (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hydromyelocele with hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hydrocephalus with obesity and hypogonadism syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cystic bronchiectasis	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Goldberg Shprintzen megacolon syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Long segment Hirschsprung's disease (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spina bifida with hydrocephalus of late onset	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital obstructive megaureter	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short segment Hirschsprung's disease	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Haddad syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hirschsprung disease of rectosigmoid region	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
syndrome d'Okamoto	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hydrocephalus caused by toxoplasmosis	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral congenital primary hydronephrosis (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Choledochocele (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hirschsprung disease with type D brachydactyly syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rachischisis with hydrocephalus	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megacystis-megaureter syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterised 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	Existential restriction modifier (core metadata concept)	1
Hirschsprung disease with deafness and polydactyly syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
L1 syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

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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
97003018	Congenital dilatation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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