Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Mixed germ cell neoplasm of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Quantitative electroencephalogram (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Intracranial hypotension due to cerebrospinal fluid fistula |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Nongerminomatous germ cell tumor of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Fetal malformation of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Spontaneous intracranial hypotension (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Alpha-N-acetylgalactosaminidase deficiency type 2 |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Implantable analgesic spinal cord electrical stimulation system pulse generator |
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 |
|
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly and neurological developmental delay. Type 3 Cockayne syndrome, is the mildest type. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 1 Cockayne syndrome, also 'classic' or 'moderate' usually presents in early childhood. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 2 Cockayne syndrome, also known as 'severe' or 'early onset' usually presents in at or soon after birth. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Bilateral upper motor neurone lesion |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Lesion of left upper motor neuron (finding) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Lesion of right upper motor neuron |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Upper motor neurone lesion (finding) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Hemiparesis of left side of face (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Hemiparesis of right side of face (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Fetal spina bifida (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Neonatal agitation |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Neonatal hypokinesia |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Coma in the newborn |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Pure autonomic failure (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
4 |
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
4 |
Parkinsonian syndrome with idiopathic orthostatic hypotension (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
5 |
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
6 |
Progressive cerebellar ataxia with hypogonadism |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Primary primitive neuroectodermal neoplasm of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Spastic paralysis due to birth injury |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Fibrous skin tumor of tuberous sclerosis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
5 |
Tuberous sclerosis syndrome |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Pulmonary tuberous sclerosis (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
7 |
Anaplastic oligodendroglioma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Anaplastic ependymoma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Anaplastic oligoastrocytoma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Anaplastic ganglioglioma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Cerebrospinal fluid shunt port/reservoir |
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 |
|
Germinoma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Cerebrospinal fluid shunt catheter plug |
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 |
|
Lumbar or thoracic cerebrospinal fluid shunt subcutaneous anchor |
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 |
|
Gliosarcoma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Giant cell glioblastoma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Gemistocytic astrocytoma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Fibrillary astrocytoma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Astroblastoma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Central nervous system deficit |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Parasitic infection of central nervous system |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (including loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (including plagio/brachycephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Non-Hodgkin lymphoma of central nervous system metastatic to lymph node of lower limb |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Non-Hodgkin lymphoma of central nervous system metastatic to lymph node of upper limb (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Intraocular non-Hodgkin malignant lymphoma (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Granuloma of central nervous system caused by Schistosoma (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Mitochondrial respiratory chain complex I structural subunit gene defect |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Mitochondrial respiratory chain complex I assembly gene defect |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Yolk sac tumour of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor. |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
5 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Intracranial hypotension following ventricular shunting |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
4 |
A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
4 |
Myelin oligodendrocyte glycoprotein antibody-associated disease |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Myelin oligodendrocyte glycoprotein antibody-associated disease |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Metastatic neuroblastoma to central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Obstetric anesthesia with central nervous system complications - delivered |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Obstetric anesthesia with central nervous system complication - delivered with postnatal problem |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
anesthésie obstétricale avec complication du système nerveux central et problème prénatal |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
anesthésie obstétricale avec complication du système nerveux central et problème postnatal |
Finding site |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Obstetric anaesthesia with central nervous system complication in childbirth |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Amyotrophic lateral sclerosis with multiple system atrophy |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Demyelination of central nervous system due to Whipple disease (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Demyelination of central nervous system due to Lyme borreliosis (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Autonomic disorder due to multiple sclerosis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
3 |
Autonomic disorder due to multiple sclerosis |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
4 |
Primary neuroblastoma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Primary ganglioneuroblastoma of central nervous system |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Primary glioblastoma multiforme of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Primary malignant glioma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Primary anaplastic oligoastrocytoma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Primary anaplastic ganglioglioma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Primary mixed germ cell neoplasm of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Chronic inflammatory demyelinating disease of peripheral nervous system and central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Chronic inflammatory demyelinating disease of peripheral nervous system and central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
2 |
Presence of regression of primary malignant neoplasm of central nervous system after neoadjuvant antineoplastic therapy (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
8 |
Increased cerebrospinal fluid production due to choroid plexus carcinoma (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Increased cerebrospinal fluid production due to benign papilloma of choroid plexus (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Increased cerebrospinal fluid production due to hyperplasia of choroid plexus (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Intracranial hypotension due to cerebrospinal fluid otorrhea (disorder) |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |
Intracranial hypotension due to cerebrospinal fluid rhinorrhoea |
Finding site |
True |
Structure of central nervous system (body structure) |
Inferred relationship |
Some |
1 |