55661009: Congenital cavitation (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
kongenit kavitation	Is a	kongenit anomali	false	Inferred relationship	Some
kongenit kavitation	Is a	Kongenit malformation	false	Inferred relationship	Some
kongenit kavitation	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kongenit dilatation	Is a	False	kongenit kavitation	Inferred relationship	Some
kongenit cystisk dilatation med væskeakkumulation	Is a	False	kongenit kavitation	Inferred relationship	Some
kongenit akkumulering af væske	Is a	False	kongenit kavitation	Inferred relationship	Some
Single congenital cerebral cyst	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	2
Multiple congenital cerebral cysts	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Congenital cystic adenomatoid malformation of lung	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Enkelt lungecyste	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	2
Congenital cerebral cyst	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	2
Colloid cyst of third ventricle	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	3
Polycystic kidney disease, infantile type	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	4
Congenital choledochal cyst	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Congenital porencephaly	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Microcystic renal disease	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Congenital honeycomb lung	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Congenital cystic lung	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
kongenit cerebral cyste, ikke nærmere specificeret	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	2
kongenit cystelungesygdom, uspecificeret	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Anden specificeret kongenit cystelunge	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
kongenit cystelunge, ikke nærmere specificeret	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
[EDTA] Polycystic kidneys, infantile (recessive) associated with renal failure	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Congenital honeycomb lung	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Congenital porencephaly	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
kongenit cystelunge, ikke nærmere specificeret	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
kongenit cystelungesygdom, uspecificeret	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Congenital cystic lung	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Congenital cystic adenomatoid malformation of lung	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Anden specificeret kongenit cystelunge	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Cystic malformation of posterior fossa (disorder)	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	2
Dandy-Walker syndrome with spina bifida	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	4
Dandy-Walker syndrome	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	4
Posterior fossa arachnoid cyst (disorder)	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	4
Persistent Blake's pouch cyst	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	2
Polycystic kidney disease, infantile type	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	2
Congenital porencephaly	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	3
Congenital cystic adenomatoid malformation of lung	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	3
Dandy-Walker syndrome with spina bifida	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	6
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	kongenit kavitation	Inferred relationship	Some	8
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	kongenit kavitation	Inferred relationship	Some	15
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	kongenit kavitation	Inferred relationship	Some	6
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	kongenit kavitation	Inferred relationship	Some	9
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	kongenit kavitation	Inferred relationship	Some	10
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	kongenit kavitation	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	kongenit kavitation	Inferred relationship	Some	11
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	kongenit kavitation	Inferred relationship	Some	8
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	kongenit kavitation	Inferred relationship	Some	5
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	kongenit kavitation	Inferred relationship	Some	10
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	kongenit kavitation	Inferred relationship	Some	6
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	kongenit kavitation	Inferred relationship	Some	5
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	kongenit kavitation	Inferred relationship	Some	7
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Posterior fossa arachnoid cyst (disorder)	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
Persistent Blake's pouch cyst	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
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	kongenit kavitation	Inferred relationship	Some	6
Cystic malformation of posterior fossa (disorder)	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	1
A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	2
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	3
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	kongenit kavitation	Inferred relationship	Some	7
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	kongenit kavitation	Inferred relationship	Some	6
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	kongenit kavitation	Inferred relationship	Some	6
Dandy-Walker syndrome	Associated morphology	False	kongenit kavitation	Inferred relationship	Some	2
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	kongenit kavitation	Inferred relationship	Some	4
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	kongenit kavitation	Inferred relationship	Some	5
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	kongenit kavitation	Inferred relationship	Some	5
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	kongenit kavitation	Inferred relationship	Some	4

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
92525012	Congenital cavitation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
92530011	Congenital cavity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
92531010	Congenital cystic dilatation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
92532015	Congenital cystic malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
794061019	Congenital cavitation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3027041000005110	kongenit kavitation	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)