Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Oro-facial digital syndrome type 12 |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Asymptomatic secondary neurosyphilis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ehrlichia infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amoebic infection of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Naegleria infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Benign nocturnal alternating hemiplegia of childhood (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute neurological rabies |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rabies - recovery phase |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cytomegalovirus infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
tabès juvénile |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tabetic neurosyphilis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Paralytic rabies |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
tabes dorsalis |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Progressive locomotor ataxia (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Late quaternary neurosyphilis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Enterovirus infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Parvovirus infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Taboparesis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Human rabies (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rabies prodrome |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Escherichia coli infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Incubating rabies |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Derriengue |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic spinal syphilitic paralysis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coxsackievirus infection of the central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Asymptomatic neurosyphilis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rabies |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningovascular syphilis - quaternary stage (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile tabes dorsalis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Echovirus infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Leptospira infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Listeria infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurosyphilis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile taboparesis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Secondary neurosyphilis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Late congenital neurosyphilis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Herpes virus infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ecchordosis physaliphora (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Galloway Mowat syndrome (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Isotretinoin embryopathy-like syndrome (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ependymoma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cryptococcus infection of the central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Blastomyces infection of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrocystin 3-related Meckel-like syndrome (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare skin disease characterised by the association of sebaceous naevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic naevus 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 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Parasitic infection of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cerebrospinal nematodiasis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cysticercosis of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fungal infection of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Central nervous system candidiasis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipoic acid synthetase deficiency |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tabetic joint |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Slow viral central nervous system infection |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amyotrophic lateral sclerosis type 4 |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Synucleinopathy |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Radiologically isolated syndrome |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Angiography of intracranial vascular structure using radioactive isotope |
Procedure site - Direct (attribute) |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Type 1 diabetes mellitus with hyperosmolar coma |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Disorder of intracranial venous sinus |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Embolism superior longitudinal sinus |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hyperosmolar hyperglycemic coma due to diabetes mellitus without ketoacidosis (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hyperosmolar coma due to type 2 diabetes mellitus (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Embolism of intracranial venous sinus |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Embolism cavernous sinus |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hyperosmolar coma due to diabetes mellitus |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hyperosmolar coma due to secondary diabetes mellitus |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Inherited congenital spastic tetraplegia (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Embolism of cavernous venous sinus |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive relapsing multiple sclerosis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Marburg acute multiple sclerosis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Marburg acute multiple sclerosis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Intracranial hypotension due to and following lumbar puncture (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive multiple sclerosis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive multiple sclerosis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Medulloepithelioma of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Measles of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Normal central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary cerebral amyloid angiopathy, Dutch type |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hereditary cerebral hemorrhage with amyloidosis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Injury of central nervous system due to birth trauma (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute relapsing multiple sclerosis |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Benign ependymoma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infection of central nervous system caused by Paracoccidioides brasiliensis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Necrosis of central nervous system caused by ionizing radiation (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Central nervous system shunt |
Has device intended site (attribute) |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Central nervous system function (observable entity) |
Inheres in |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Structure of fetal central nervous system |
Is a |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary angiitis of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Granulomatous angiitis of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mixed germ cell neoplasm of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |