Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Assessment of dizziness |
Procedure site - Direct (attribute) |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Assessment of peripheral neurovascular function (procedure) |
Procedure site - Direct (attribute) |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Assessment of fine motor function |
Procedure site - Direct (attribute) |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurovascular deficit (finding) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Apraxia due to and following ischemic cerebrovascular accident (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Paraplegia due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hyperosmolar hyperglycemic coma due to diabetes mellitus without ketoacidosis (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensory disturbance of vulva (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Structure of left half of nervous system |
Is a |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of right half of nervous system |
Is a |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neonatal tetany without calcium deficiency |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Movement disorder due to toxicity of substance (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neonatal tetany without magnesium deficiency |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Disorder of nervous system caused by West Nile virus (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant congenital benign spinal muscular atrophy |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Distal hereditary motor neuropathy Jerash type (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Idiopathic recurrent stupor |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spina bifida and hypospadias syndrome |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Balint syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked distal spinal muscular atrophy type 3 (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Paralysis from birth trauma (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipomeningocele (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive distal spinal muscular atrophy type 3 |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked distal spinal muscular atrophy type 3 (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Distal hereditary motor neuropathy type 1 (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chagas' disease with nervous system involvement |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Distal hereditary motor neuropathy type 7 (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinal atrophy, ophthalmoplegia, pyramidal syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive lower motor neuron disease with childhood onset |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Visual snow syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurological or neuromuscular procedure |
Procedure site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tetanic opisthotonus |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurobartonellosis |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Obstetrical tetanus |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tetanus neonatorum |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurological varicella |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
tétanos compliquant une grossesse molaire et/ou extra-utérine |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Human immunodeficiency virus infection with neurological disease |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bannwarth syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Puerperal tetanus |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Young adult-onset distal hereditary motor neuropathy |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Seckel syndrome |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Papular epidermal naevi with skyline basal cell layers syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reduction anomaly of hypothalamus |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Peutz-Jeghers polyps of small bowel |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurofibromatosis Noonan syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterised 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 |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ectopic grey matter in centrum ovale |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
syndrome de malformations de la fosse postérieure, hémangiomes capillaires, anomalies de l'anatomie des artères cérébrales, coarctation de l'aorte et autres malformations cardiaques, anomalies oculaires et anomalies sternales |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
PHACE syndrome |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Contiguous ABCD1 DXS1357E deletion syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Embryonic nervous system structure |
Is a |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe neurodegenerative syndrome with lipodystrophy |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Childhood-onset spasticity with hyperglycinemia (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Isolated asymptomatic elevation of creatine phosphokinase (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Herpes zoster mit Komplikation des Nervensystems |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital cataract, hearing loss, severe developmental delay syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurofibromatose Typ 3 |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lower motor neuron syndrome with late-adult onset (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Navajo neurohepatopathy |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial congenital mirror movements (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurotoxic shellfish poisoning |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurotoxicity (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mills syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute akathisia caused by drug (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cerebral-retinal arteriovenous aneurysm (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tremor, nystagmus, duodenal ulcer syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurotoxicity caused by methotrexate (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurotoxic shellfish poisoning |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chronic cerebral ischemia |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acute cerebrovascular insufficiency |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
AGel amyloidosis |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Infective paralysis of accommodation |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurotoxicity caused by procarbazine |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurotoxicity caused by vincristine (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurotoxicity caused by vinblastine |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurotoxicity caused by L-asparaginase |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Male emopamil-binding protein disorder with neurological defect |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Encephalocraniocutaneous lipomatosis |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sporadic hyperekplexia (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Percutaneous implantation of neurostimulator electrodes into neuromuscular component |
Procedure site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Neuromuscular stimulation |
Procedure site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Weight and pulley systems using proprioceptive neuromuscular facilitation patterns |
Procedure site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tetanus with trismus (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Induction of neuromuscular blockade |
Procedure site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reversal of neuromuscular blockade |
Procedure site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |