| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Assessment of dizziness |
Procedure site - Direct (attribute) |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Assessment of peripheral neurovascular function (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Assessment of fine motor function |
Procedure site - Direct (attribute) |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurovascular deficit (finding) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Apraxia due to and following ischemic cerebrovascular accident (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Paraplegia due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Hyperosmolar hyperglycemic coma due to diabetes mellitus without ketoacidosis (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| Sensory disturbance of vulva |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Structure of left half of nervous system (body structure) |
Is a |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| Structure of right half of nervous system |
Is a |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| Neonatal tetany without calcium deficiency |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Movement disorder due to toxicity of substance |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neonatal tetany without magnesium deficiency (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Disorder of nervous system caused by West Nile virus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (around 10 years after onset). |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
| Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalmologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. |
Finding site |
True |
Structure of 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 |
False |
Structure of 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 |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Paralysis from birth trauma (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Chagas' disease with nervous system involvement |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare slowly progressive genetic peripheral neuropathy with characteristics of distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with unilateral or bilateral vocal cord paresis leading to hoarse voice, breathing difficulties and facial weakness. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare bulbospinal muscular atrophy characterised by generalised neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare neurologic disease with characteristics of persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurological or neuromuscular procedure |
Procedure site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tetanic opisthotonus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurobartonellosis |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Obstetrical tetanus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tetanus neonatorum |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurological varicella (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| tetanus, der komplicerer ektopisk OG/ELLER molagraviditet |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Human immunodeficiency virus infection with neurological disease |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Bannwarth syndrome |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Puerperal tetanus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive distal hereditary motor neuropathy with characteristics of slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. There is evidence this disease is caused by homozygous mutation in the DNAJB2 gene on chromosome 2q35. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Seckel syndrome |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic neurocutaneous syndrome with characteristics of the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular poly cyclically-shaped, epidermal keratotic papules and plaques of gem-like appearance with a rough surface, typically located on the trunk and proximal limbs. Associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Reduktion af hypothalamusanomali |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Peutz-Jeghers polyps of small bowel |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Ectopic gray matter in centrum ovale |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Disease with characteristics of muscle weakness and atrophy in the lower limbs, most severely affecting the quadriceps. The loss of motor neurons leads to atrophy of the muscles in the lower limbs with manifestations including unsteady walk and walking on the balls of the feet. Some also have weakness in upper limb muscles. Contractures of the hips, knees, feet, and ankles may occur and in severe cases may be present from birth. Muscle problems are apparent in infancy or early childhood however about one-quarter of affected individuals do not develop muscle weakness until adulthood. Caused by mutations in the DYNC1H1 gene or BICD2 gene. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Embryonic nervous system structure |
Is a |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| A rare genetic neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare neurologic disease with characteristics of persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neuro-physical or histopathological evidence of neuromuscular disease using available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| herpes zoster med komplikation i nervesystemet |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Schwannomatosis |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic motor neuron disease with characteristics of slowly progressive predominantly proximal muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor and elevated serum creatine kinase at onset and later associates gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss and renal disease. Additional variably observed clinical features include intellectual disability, seizures, and cardiomyopathy. Caused by homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic movement disorder with characteristics of involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurotoxic shellfish poisoning |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurotoxicity |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare acquired motor neuron disease with characteristics of a slowly progressive unilateral ascending or descending hemiplegia, associated with unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and controversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations are characteristics of the disease. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Acute akathisia caused by drug (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Cerebral-retinal arteriovenous aneurysm (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurotoxicity caused by methotrexate (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurotoxic shellfish poisoning |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Chronic cerebral ischemia |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Acute cerebrovascular insufficiency |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN). |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Infective paralysis of accommodation |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurotoxicity caused by procarbazine |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurotoxicity caused by vincristine (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurotoxicity caused by vinblastine |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurotoxicity caused by L-asparaginase (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Encephalocraniocutaneous lipomatosis |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare neurologic disease with characteristics of excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Percutaneous implantation of neurostimulator electrodes into neuromuscular component |
Procedure site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Neuromuscular stimulation |
Procedure site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Weight and pulley systems using proprioceptive neuromuscular facilitation patterns |
Procedure site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tetanus with trismus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Induction of neuromuscular blockade |
Procedure site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Reversal of neuromuscular blockade |
Procedure site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
FHIR