Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Choledochocele (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
2 |
Cystic dilation of intrahepatic duct |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Choledochocele (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
2 |
Cystic dilation of intrahepatic duct |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Acquired cystic dilatation of common bile duct (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Cystic dilatation of common bile duct (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Anastomosis of choledochal cyst (procedure) |
Direct morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital choledochal cyst (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
2 |
Acquired cystic dilatation of common bile duct (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Cystic dilatation of common bile duct (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Anastomosis of choledochal cyst (procedure) |
Direct morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital choledochal cyst (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
2 |
Cystic dilatation of paraurethral gland (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Cystic dilatation of paraurethral gland (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Cystic dilatation of duct of bulbourethral gland (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital urethral syringocele |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Some |
3 |
Congenital urethral syringocele |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Dandy-Walker syndrome |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
4 |
Dandy-Walker syndrome |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
2 |
Posterior fossa arachnoid cyst (disorder) |
Associated morphology |
True |
Cystic dilatation |
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 |
True |
Cystic dilatation |
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 |
True |
Cystic dilatation |
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 |
True |
Cystic dilatation |
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 |
True |
Cystic dilatation |
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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital cystic dilatation with accumulation of fluid |
Is a |
False |
Cystic dilatation |
Inferred relationship |
Some |
|
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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
6 |
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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
7 |
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by 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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
2 |
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 |
True |
Cystic dilatation |
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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
4 |
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 |
True |
Cystic dilatation |
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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
7 |
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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
5 |
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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
6 |
Congenital porencephaly |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
5 |
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 |
True |
Cystic dilatation |
Inferred relationship |
Some |
4 |
Dandy-Walker syndrome with spina bifida |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
4 |
Dandy-Walker syndrome with spina bifida |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
6 |
Cystic malformation of posterior fossa (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital cystic adenomatoid malformation of lung (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Persistent Blake's pouch cyst |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
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. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Choledochocele (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital choledochal cyst (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital pulmonary airway malformation type 4 originates in the acinar structures of the lung. It consists of peripheral thin-walled cysts, typically affecting a single lobe. There is a strong association with type 1 pleuropulmonary blastoma. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital pulmonary airway malformation type 2 originates in the bronchiolar regions and is the second most frequent type, comprising 15-25% of cases. It may be associated with other types of renal or cardiac anomalies. Usually, it presents as multiple small cysts less than 2cm in diameter. The prognosis is good with no malignant potential. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital pulmonary airway malformation type 3 originates in the bronchiolar regions and may involve an entire lobe, compressing other lobes. It comprises 10% of all cases and the lesions may be solid not cystic and are less than 5mm in diameter. The prognosis is good with no malignant potential; however, there is typically an absence of pulmonary arteries within the lesion. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital pulmonary airway malformation type 1 is the commonest type, comprising about 70% of all cases. The cysts in this type are usually located within a single lobe and lined with columnar epithelium. There are often 1 or 2 large cysts up to 10cm in size which may be surrounded by smaller cysts. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Congenital pulmonary airway malformation type 0 originates in the trachea or bronchi with acinar dysgenesis, cartilage, smooth muscles, and glands separated by mesenchyme. It is fatal after birth. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
4 |
Cervical myelocystocele |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
2 |
Thoracic myelocystocele |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
2 |
Lumbar myelocystocele |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
2 |
Congenital cystic dilatation of common bile duct |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Acquired choledochal cyst (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Choledochal cyst (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
Cystic dilatation with accumulation of fluid |
Is a |
True |
Cystic dilatation |
Inferred relationship |
Some |
|
A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
2 |
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |
A rare closed spinal dysraphism with characteristics of myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Some |
1 |