Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Entire brain cerebrospinal fluid pathway (body structure) |
Is a |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
|
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. |
Finding site |
False |
Brain cerebrospinal fluid pathway |
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. |
Finding site |
False |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
13 |
Creation of ventriculosubgaleal shunt (procedure) |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Communicating hydrocephalus due to and following traumatic hemorrhage (disorder) |
Finding site |
False |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Finding site |
False |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
9 |
Insertion of cerebrospinal fluid drain |
Procedure site - Indirect (attribute) |
False |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Single photon emission computed tomography of cerebrospinal fluid flow |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Radionuclide scan of cerebrospinal fluid flow of brain using indium 111 |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Congenital obstructive hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Communicating hydrocephalus due to and following traumatic hemorrhage (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Acquired obstructive hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydromyelocele with hydrocephalus |
Finding site |
False |
Brain cerebrospinal fluid pathway |
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. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Congenital hydrocephalus caused by toxoplasmosis |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
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. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
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. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
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. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
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. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
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. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
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. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
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. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
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. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Cervical spina bifida with hydrocephalus - open |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Thoracic spina bifida with hydrocephalus - open |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
5 |
Sacral spina bifida with hydrocephalus - open |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Thoracic spina bifida with hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
4 |
Spina bifida with hydrocephalus - closed |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Cervical spina bifida with hydrocephalus - closed |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Spina bifida with hydrocephalus - open |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
4 |
Lumbar spina bifida with hydrocephalus - closed |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Sacral spina bifida with hydrocephalus - closed |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Fissured spine with hydrocephalus |
Finding site |
False |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
4 |
Lumbar spina bifida with hydrocephalus - open |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Cervical spina bifida with hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Lumbar spina bifida with hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
4 |
A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Fluoroscopic cisternography with contrast |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
CT cisternography |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Acquired hydrocephalus of newborn |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Fetal hydrocephalus (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Myelocele with hydrocephalus (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
4 |
A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydrocephalus due to Dandy-Walker malformation (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Structure of fetal brain cerebrospinal fluid pathway |
Is a |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
|
Ex-vacuo hydrocephalus due to infection |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Hydrocephalus due to tuberculosis of brain (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Cervicothoracic spina bifida aperta with hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Lumbosacral spina bifida aperta with hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
X-linked complicated corpus callosum dysgenesis (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Obstructive hydrocephalus due to entrapment of inferior horn of lateral ventricle |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Benign intracranial hypertension due to drug (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Hydrocephalus following infectious disease |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Progressive post haemorrhagic ventricular dilatation |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Post-traumatic non-communicating hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Hydrocephalus due to mycosis (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Pyogenic hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Postinfectious hydrocephalus |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Benign intracranial hypertension due to obesity (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Injection of drug or medicament into cerebrospinal fluid (procedure) |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Injection of substance into cerebrospinal fluid |
Procedure site - Indirect (attribute) |
False |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to and following procedure on central nervous system (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to invasion by neoplasm of skull (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to under-drainage of ventricular shunt (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to osteomyelitis (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to collagen deficiency syndrome (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to and following injury of head (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to and following lumbar puncture (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to empty sella syndrome (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to hydrocephalus (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Leak of cranial cerebrospinal fluid due to and following surgical procedure (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydrocephalus ex vacuo due to degenerative brain disorder (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydrocephalus ex vacuo due to aging (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydrocephalus ex vacuo due to and following radiation therapy (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydrocephalus ex vacuo due to injury of brain (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydrocephalus ex vacuo due to cerebrovascular disease (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydrocephalus due to Arnold Chiari malformation |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydrocephalus due to obstruction of fourth ventricle outflow (disorder) |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Hydrocephalus due to intracranial neoplasm |
Finding site |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Needling of hydrocephalic head (procedure) |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Transabdominal encephalocentesis of fetal head |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Encephalocentesis |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Removal of shunt tubing from ventricle of brain |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Take-down of cerebral ventricular shunt |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Removal of spinal thecal shunt |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Removal of pleurothecal shunt |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
CSF shunt removal |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Removal of salpingothecal shunt |
Procedure site - Indirect (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
2 |
Creation of subarachnoid/subdural-pleural shunt |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Creation of lumbar subarachnoid-pleural shunt with laminectomy |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Creation of lumbar subarachnoid-peritoneal shunt with laminectomy |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
4 |
Spinal salpingothecal shunt with valve |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
5 |
Subarachnoid-ureteral spinal shunt |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
3 |
Creation of thecopleural shunt |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |
Creation of lumbar subcutaneous shunt (procedure) |
Procedure site - Direct (attribute) |
True |
Brain cerebrospinal fluid pathway |
Inferred relationship |
Some |
1 |