Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Oro-facial digital syndrome type 12 |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
5 |
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Asymptomatic secondary neurosyphilis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Ehrlichia infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Amebic infection of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Infection of central nervous system caused by Naegleria (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterised by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioural abnormalities. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Acute neurological rabies |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Rabies - recovery phase |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Infection of central nervous system caused by Cytomegalovirus (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
tabès juvénile |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Tabetic neurosyphilis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Paralytic rabies (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
tabes dorsalis |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Progressive locomotor ataxia |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Late quaternary neurosyphilis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Infection of central nervous system caused by Enterovirus (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Infection of central nervous system caused by Parvovirus (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Taboparesis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Human rabies (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Rabies prodrome |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Escherichia coli infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Incubating rabies |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Derriengue |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Spastic spinal syphilitic paralysis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Coxsackievirus infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Asymptomatic neurosyphilis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Rabies |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Meningovascular syphilis - quaternary stage |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Juvenile tabes dorsalis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Echovirus infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Leptospira infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Listeria infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Neurosyphilis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Juvenile taboparesis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Secondary neurosyphilis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Late congenital neurosyphilis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Herpes virus infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Ecchordosis physaliphora |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Ependymoma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Cryptococcus infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Blastomyces infection of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Parasitic infection of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Cerebrospinal nematodiasis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Cysticercosis of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Fungal infection of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Central nervous system candidiasis (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Tabetic joint |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Slow viral central nervous system infection |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Synucleinopathy |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Radiologically isolated syndrome |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Angiography of intracranial vascular structure using radioactive isotope (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Hyperosmolar coma due to type 1 diabetes mellitus (disorder) |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Disorder of intracranial venous sinus (disorder) |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Embolism superior longitudinal sinus |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Hyperosmolar hyperglycemic coma due to diabetes mellitus without ketoacidosis (disorder) |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Hyperosmolar coma due to type 2 diabetes mellitus (disorder) |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Embolism of intracranial venous sinus |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Embolism cavernous sinus |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Hyperosmolar coma due to diabetes mellitus |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Hyperosmolar coma due to secondary diabetes mellitus |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Embolism of cavernous venous sinus |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Progressive relapsing multiple sclerosis (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
6 |
Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
4 |
Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Intracranial hypotension due to lumbar puncture |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Progressive multiple sclerosis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Progressive multiple sclerosis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Medulloepithelioma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Measles of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Normal central nervous system (finding) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Hereditary cerebral amyloid angiopathy, Dutch type |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Injury of central nervous system due to birth trauma (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Acute relapsing multiple sclerosis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Benign ependymoma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Infection of central nervous system caused by Paracoccidioides brasiliensis (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Necrosis of central nervous system caused by ionizing radiation (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Central nervous system shunt |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
|
Central nervous system function (observable entity) |
This attribute specifies the independent continuant which bears the quality, and on which the dependent quality (of this observable) depends. |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Structure of fetal central nervous system |
Is a |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
|
Primary angiitis of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
angéite granulomateuse du système nerveux central |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Mixed germ cell neoplasm of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |