| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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 |
| Neurostimulator electrode |
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 |
|
| Implantable lumbar neuromuscular electrical stimulation system lead (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 |
|
| Intranasal lacrimal neurostimulator electrode (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 |
|
| Congenital horizontal gaze palsy (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Isolated congenital horizontal gaze paresis |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Ocular contrapulsion (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Directional deficiency of smooth pursuit movements |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Immune effector cell-associated neurotoxicity syndrome (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Intermittent horizontal conjugate gaze deviation (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Intermittent upward gaze deviation (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Myoclonus due to paraneoplastic syndrome (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Horizontal gaze preference (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Combined paralysis of upgaze and downgaze |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Ophthalmoplegia due to and following Guillain-Barré syndrome (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Ophthalmoplegia due to neuropathy (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Paralysis of downgaze |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Paralysis of upgaze (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Ocular ipsipulsion |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Paraneoplastic opsoclonus myoclonus syndrome |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Ocular lateropulsion |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Neurological disorder caused by ethanol (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Vertical one-and-a-half syndrome (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Voluntary saccadic oscillations (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Ophthalmoplegia due to phytanic acid storage disease (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Injection of botulinum toxin into vocalis muscle using electromyography guidance |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Post-saccadic drift (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Periodic alternating gaze deviation |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Saccadic pulse-step mismatch |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Retinotopic pursuit defect |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Sustained upward gaze deviation (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Sustained horizontal conjugate gaze deviation, contralateral type (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Sustained horizontal conjugate gaze deviation, ipsilateral type (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Sustained horizontal conjugate gaze deviation |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Fabry's disease |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
| A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Ataxia due to subpial siderosis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Ataxia due to acquired vitamin deficiency |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Adult-onset tic disorder (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital multi-minicore disease with external ophthalmoplegia (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
| A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Neurological disorder due to and following lumbar puncture |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Chorea caused by oral contraceptive (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Chorea caused by dopamine receptor antagonist (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurostimulator |
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 |
|
| Psychiatric-therapy vagus nerve electrical stimulation system |
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 |
|
| Coma-arousal vagus nerve electrical stimulation system |
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 |
|
| Antiseizure vagus nerve electrical stimulation system |
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 |
|
| Migraine-therapy vagus nerve electrical stimulator |
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 |
|
| Reactive-airway-therapy vagus nerve electrical stimulator |
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 |
|
| Cardiac-therapy vagus nerve electrical stimulation system |
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 |
|
| Pharyngeal electrical stimulation catheter |
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 |
|
| Implantable lumbar neuromuscular electrical stimulation system pulse generator (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 |
|
| Vagal nerve stimulator (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 |
|
| Transcutaneous electrical nerve stimulator (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 |
|
| Analgesic spinal cord electrical stimulation system pulse generator (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 |
|
| Gastric electrical stimulator (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 |
|
| Lacrimal vibratory neurostimulator |
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 |
|
| Auditory and translingual tinnitus therapy electrical stimulation system (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 |
|
| Motor neuron disease due to gammopathy (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Benign monomelic amyotrophy of lower limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Benign monomelic amyotrophy of upper limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Motor neuron disease due to herpes zoster (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Motor neuron disease due to human immunodeficiency virus infection (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Motor neuron disease due to hereditary spastic paraplegia (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Motor neuron disease due to and following radiotherapy to spinal cord (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Myoclonic disorder due to dementia |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Myoclonic disorder due to sialidosis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Myoclonic disorder due to mitochondrial disorder (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Myoclonic disorder due to hepatic failure (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Myoclonic disorder due to neuronal ceroid lipofuscinosis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Myoclonic disorder due to uremia |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Motor neuron disease due to neoplastic disease (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Seizure free (finding) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Seizure free > 12 months |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tetanus following ectopic pregnancy (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tetanus following ectopic pregnancy (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Tetanus following molar pregnancy |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tetanus following molar pregnancy |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Structure of motor nervous system (body structure) |
Is a |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| Acquired ataxia due to vitamin deficiency |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Chronic neuropathic pain following spinal cord injury (finding) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Chronic neuropathic pain following brain injury |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Spinal cord rehabilitation transcutaneous electrical stimulation system (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 |
|
| Ultrasonography of nervous system (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Implantable electrode of neurological device |
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 |
|
| An autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development followed by decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. Caused by homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital neurogenic urinary bladder (finding) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare acquired motor neuron disease with characteristics of an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare mosaic form of neurofibromatosis type 1 (NF1) characterised by findings typical of NF1, namely multiple cafe-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumours of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicism and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare mosaic form of NF2-related schwannomatosis characterised by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumours, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Analgesic periauricular vagus nerve percutaneous electrical stimulator |
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 |
|
| Glutaryl-CoA dehydrogenase deficiency |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
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