Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Choledochocele (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cystic dilation of intrahepatic duct |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Choledochocele (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cystic dilation of intrahepatic duct |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired cystic dilatation of common bile duct (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cystic dilatation of common bile duct (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anastomosis of choledochal cyst (procedure) |
Direct morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital choledochal cyst (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired cystic dilatation of common bile duct (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cystic dilatation of common bile duct (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anastomosis of choledochal cyst (procedure) |
Direct morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital choledochal cyst (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cystic dilatation of paraurethral gland (disorder) |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cystic dilatation of paraurethral gland (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cystic dilatation of duct of bulbourethral gland (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital urethral syringocele |
Associated morphology |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital urethral syringocele |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dandy-Walker syndrome (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Dandy-Walker syndrome (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Posterior fossa arachnoid cyst (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
7 |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital cystic dilatation with accumulation of fluid |
Is a |
False |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
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 |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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 |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Pettigrew syndrome |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pettigrew syndrome |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Congenital porencephaly |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Dandy-Walker syndrome with spina bifida |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Dandy-Walker syndrome with spina bifida |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cystic malformation of posterior fossa (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital cystic adenomatoid malformation of lung |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Persistent Blake's pouch cyst |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Choledochocele (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital choledochal cyst (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital pulmonary airway malformation type 4 |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital pulmonary airway malformation type 2 (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital pulmonary airway malformation type 3 |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
1 |
Myelocystocele |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cervical myelocystocele |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thoracic myelocystocele |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lumbar myelocystocele (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital cystic dilatation of common bile duct |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired choledochal cyst (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Choledochal cyst (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cystic dilatation with accumulation of fluid |
Is a |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mixed cystic lymphatic malformation |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Caroli syndrome (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
1 |
Non-terminal myelocystocele (disorder) |
Associated morphology |
True |
Cystic dilatation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |