Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Acute herpes zoster neuropathy (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
5 |
Simple acroparesthesia |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Pins and needles |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Acroparesthesia |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Paresthesia |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Paresthesia of mucous membrane |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Facial paresthesia |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Paresthesia of upper limb |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
Transient paraesthesia |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
à l'examen : présence de paresthésie |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
3 |
On examination - paresthesia in hands |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
1 |
Paraesthesia of hand |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
Paresthesia of foot |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
plainte : paresthésie |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
Formication of skin (finding) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Paresthesia of lower extremity (finding) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Numbness and tingling sensation of skin |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Neuropathy due to nutritional deficiency (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Nerve block |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
techniques neurolytiques |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
Dorsal root entry zone lesion |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
Cryotherapy to stellate ganglion |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
Neurolytic autonomic nerve block |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
CT guided nerve block |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
1 |
Myokymia of eyelid (finding) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Myokymia of left superior oblique muscle (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
Myokymia of right superior oblique muscle (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
Polyneuropathy caused by ionizing radiation (disorder) |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
3 |
Disorder of nerve due to type 1 diabetes mellitus (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Injection of celiac plexus using computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
Inflammatory neuropathy due to and following vaccination |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
Paresthesia of finger (finding) |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain. |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
1 |
Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal. |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
1 |
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Paresthesia of left upper limb (finding) |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
Paresthesia of right upper limb |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Paresthesia of left lower limb |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Paresthesia of right lower limb |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Immune-mediated neuropathy |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/areflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Pelvic girdle and lower limb multiple nerve injuries |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
Nerve palsy |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense. |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
1 |
névrite et/ou radiculite provoquées par une hernie discale lombaire |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated. |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
1 |
A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Sensory neuropathy due to diabetes mellitus (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Sensory neuropathy due to type 1 diabetes mellitus (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Congenital hypomyelinating neuropathy |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Fibrolipomatous hamartoma of nerve (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Neuritis co-occurrent with human immunodeficiency virus infection (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
neuropathie due à un diabète sucré de type 1 |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
1 |
Lipoma of nerve |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Palsy of upper motor nerve |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
à l'examen : paralysie du motoneurone supérieur d'un nerf crânien |
Finding site |
False |
Nerve structure |
Inferred relationship |
Some |
4 |
Hydrodissection of nerve |
Procedure site - Indirect (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Post-traumatic nerve entrapment (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Hereditary sensory autonomic neuropathy type IIA |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Hereditary sensory autonomic neuropathy type IIB (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Hereditary sensory autonomic neuropathy type ID |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Hereditary sensory autonomic neuropathy type IE |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Hereditary sensory autonomic neuropathy type IA (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Hereditary sensory autonomic neuropathy type IC (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Cooled radiofrequency ablation of nerve using ultrasonographic guidance |
Procedure site - Direct (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Cooled radiofrequency ablation of nerve using fluoroscopic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Implantation of neurostimulator into nerve (procedure) |
Procedure site - Indirect (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Iatrogenic neuropathy (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Right motor nerve conduction block (finding) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Left motor nerve conduction block (finding) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Right sensory nerve conduction block |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Left sensory nerve conduction block (finding) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
Neuritis due to displacement of intervertebral disc |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Neuritis due to rupture of lumbar intervertebral disc (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Neuritis due to rupture of cervical intervertebral disc |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Neuritis due to displacement of lumbar intervertebral disc |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Neuritis due to rupture of intervertebral disc (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
Disorder of nerve due to metabolic disease (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |