Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Neurofibromatosis Noonan syndrome |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Röteln mit neurologischer Komplikation |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary orthostatic tremor (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pelizaeus Merzbacher like disease (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Insomnia due to periodic limb movement disorder (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Deficiency of monoamine oxidase A (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile amyotrophic lateral sclerosis |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked neurodegenerative syndrome Bertini type (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypoglycemic coma due to type 2 diabetes mellitus (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
X-linked distal arthrogryposis multiplex congenita (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cerebroretinal vasculopathy |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Head impulse test |
Procedure site - Direct (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Neurodisability |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Radiation injury of nervous system following radiotherapy procedure |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired vocal cord paralysis in newborn (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chorea due to heredodegenerative disorder |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ataxia due to mitochondrial mutations |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired ataxia |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tremor due to metabolic disorder |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tremor due to substance abuse |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Secondary tic disorder (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tic due to developmental disorder |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Segmental myoclonus (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amyotrophic lateral sclerosis plus syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Post poliomyelitis syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary tic disorder |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Single seizure due to remote cause |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Single unprovoked seizure |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Minimally conscious state plus (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Minimally conscious state minus (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Alternating skew deviation |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked spastic paraplegia type 2 (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sensorineural hearing loss, early greying, essential tremor syndrome |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses. |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neuroectodermal melanolysosomal disease |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Mucolipidosis type IV (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neck pain co-occurrent with neurological deficit following whiplash injury to neck |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Neurological disorder due to nutrient deficiency |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infection causing tic (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tic due to and following infection |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infection causing chorea |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to and following infective disorder (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurological disorder caused by ingestible alcohol |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Disorder of nervous system following procedure (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Functional monoparesis (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Functional paraparesis (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Seizure co-occurrent and due to hypnotic withdrawal (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Seizure co-occurrent and due to anxiolytic withdrawal |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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 |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Coenzyme A synthase protein associated neurodegeneration (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Seizure co-occurrent and due to sedative withdrawal |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Beta-propeller protein-associated neurodegeneration |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Neurological disorder due to excess intake of micronutrients (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurological disorder due to excess intake of macronutrients (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cataract, congenital heart disease, neural tube defect syndrome |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Dermatoleukodystrophy |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Perceptual disturbances and seizures co-occurrent and due to sedative withdrawal (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Perceptual disturbances and seizures co-occurrent and due to hypnotic withdrawal (disorder) |
Finding site |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ocular tilt reaction |
Finding site |
True |
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 |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Upward gaze deviation (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Divergence excess (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Synergistic divergence (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypomagnesemia with secondary hypocalcemia (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Flaccid monoplegia of upper limb (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Flaccid monoplegia of lower limb (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monoplegia of left dominant lower limb (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Monoplegia of left nondominant lower limb (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Monoplegia of right dominant lower limb |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Monoplegia of right nondominant lower limb (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Monoplegia of lower limb as sequela of cerebrovascular accident |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of left nondominant upper limb due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of right nondominant upper limb due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of arm as late effect of stroke |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoplegia of right upper limb (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Monoplegia of left upper limb (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Monoplegia of upper limb due to and following ischemic cerebrovascular accident (disorder) |
Finding site |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Neurological assessment |
Procedure site - Direct (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Determination of existing sensory impairments (procedure) |
Procedure site - Direct (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurovascular assessment |
Procedure site - Direct (attribute) |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurovascular assessment of upper limb |
Procedure site - Direct (attribute) |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurovascular assessment of lower limb |
Procedure site - Direct (attribute) |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epilepsy assessment |
Procedure site - Direct (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Assessment of dementia |
Procedure site - Direct (attribute) |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Assessment of raised intracranial pressure |
Procedure site - Direct (attribute) |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Assessment of psychotic and behavioural symptoms of dementia |
Procedure site - Direct (attribute) |
True |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Assessment of dizziness |
Procedure site - Direct (attribute) |
False |
Nervous system structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |