Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Glutaryl-CoA dehydrogenase deficiency |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
A rare form of neurofibromatosis characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves, and often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves, and the cranium. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare form of neurofibromatosis characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves, and often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves, and the cranium. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Grafting of tissue to nervous system (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare neurologic disease with psychiatric involvement with characteristics of prominent pre-psychotic developmental disabilities (cognitive, language, motor), socio-communicative disturbances, auditory hallucinations (visual and tactile hallucinations are rarer) preceding psychotic symptoms, presenting before 13 years of age. Co-occurrence of neurodevelopmental disorders (e.g. autism spectrum disorders, attention deficit hyperactivity disorder) is frequent. Disease course is more severe than adult-onset form of the disease, with major neurodevelopmental impact. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Assessment of dementia |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Assessment of raised intracranial pressure |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Assessment of fine motor function |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Assessment of dizziness |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Disorder of nervous system following radiotherapy |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
CT of nervous system with contrast |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Computed tomography of nervous system with contrast abnormal (finding) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
CT of nervous system with contrast normal |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Neurological complication following vaccination |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Ischemic limb exercise with EMG and lactic acid determination |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Progressive external ophthalmoplegia of left eye (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Right progressive external ophthalmoplegia |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Spinal neuropacemaker |
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 |
|
Bulbar neurological symptom (finding) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Assessment of medication-induced extrapyramidal symptoms (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Increased amplitude of cortical somatosensory evoked potential |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion). |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Perioperative evaluation of nervous system |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Segmental spinal muscular atrophy (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Proximal spinal muscular atrophy (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Narcolepsy type 2 (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterised by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioural abnormalities (including autistic features, aggressive behaviour, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Electro-oculography with medical evaluation (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Electro-oculogram examination (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
malattia del sistema nervoso con manifestazioni sistemiche |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |