| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Neurovascular assessment of upper limb |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurovascular assessment of lower limb |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurovascular assessment |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Assessment of peripheral neurovascular function (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neuropsychiatric disorder due to systemic lupus erythematosus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Dysmorphic sialidosis, congenital form |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Normal nervous system function |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurotoxicity caused by procarbazine |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurotoxicity caused by vincristine (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurotoxicity caused by vinblastine |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurotoxicity caused by methotrexate (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurotoxicity caused by L-asparaginase (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Alpha-N-acetylgalactosaminidase deficiency |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Alpha-N-acetylgalactosaminidase deficiency type 2 |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Fugu poisoning |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal dominant progressive external ophthalmoplegia type 1 (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal dominant progressive external ophthalmoplegia type 5 |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Tremor due to pheochromocytoma |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Perinatal neurological disorder |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Cerebral irritability in newborn |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Perinatal apneic spells |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital hypertonia |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Cerebral irritation |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Cerebral ventricular distension |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Angelman syndrome due to maternal monosomy 15q11q13 (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Motor function |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Chorea due to and following encephalitis |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Ataxia due to disorder of immune function (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Abnormal nervous system function |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurological symptom (finding) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Nervous system infection caused by Adenovirus (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Nervous system disease caused by human enterovirus (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Acyl-CoA oxidase deficiency |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Tic disorder due to rheumatic chorea |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tic disorder due to prion disease |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tic disorder due to encephalitis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tic disorder due to neurosyphilis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Infection of nervous system caused by Schistosoma (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tic disorder due to post-encephalitic syndrome |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Nail dystrophy due to habit tic (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
6 |
| Callosity due to habit tic (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
6 |
| Callosity due to biting and/or chewing (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Akathisia caused by drug (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Acute akathisia caused by neuroleptic (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurotoxicity caused by insect venom (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurological disorder due to obesity |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Reptile venom-induced neurotoxicity |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital paraplegia |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare hereditary ataxia characterised by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypaesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Structure of subdivision of nervous system (body structure) |
Is a |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| Neurological complication of procedure |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| An autosomal dominant hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| An autosomal recessive hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Caused by homozygous mutation in the gene encoding alsin ALS2 (2q33-q35). |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with the ALS3 gene on the cytogenetic location 18q21. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the FUS gene on chromosome 16p11. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the angiogenin gene (ANG) on chromosome 14q11. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Early onset schizophrenia |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. There is evidence this disease is caused by heterozygous mutation in the TARDBP gene that encodes the TDP43 protein on chromosome 1p36. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Cerebrospinal fluid shunt sensor, port and reservoir (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Isolated acquired horizontal gaze palsy (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Adult neuronal ceroid lipofuscinosis |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Dysmorphic sialidosis with renal involvement |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Adult chronic GM2 gangliosidosis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Juvenile GM2 gangliosidosis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Dysmorphic sialidosis, juvenile form |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Total hexosaminidase deficiency - juvenile |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Total hexosaminidase deficiency - adult |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| B variant hexosaminidase A deficiency - juvenile |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Acquired horizontal gaze palsy (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Ophthalmoplegia due to abetalipoproteinemia (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Autoimmune generalized polymyoclonus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Drug-induced insulin coma in nondiabetic (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Insulin coma (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip). |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]