| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Disorder of nerve due to metabolic disease (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Autosomal recessive Charcot-Marie-Tooth disease type 2 |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Autosomal recessive distal hereditary motor neuropathy (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Autosomal dominant distal hereditary motor neuropathy (disorder) |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| X-linked distal hereditary motor neuropathy |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (around 10 years after onset). |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
| Spinal muscular atrophy with respiratory distress type 1 |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| A complex hereditary spastic paraplegia characterised by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy is typical. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
4 |
| Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
| A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
6 |
| A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
6 |
| Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
| X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
4 |
| Presence of direct invasion by primary malignant neoplasm to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of liver to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of major salivary gland to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of intrahepatic bile duct to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of larynx to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of oesophagus to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of anus to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of gallbladder to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of extrahepatic bile duct to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of appendix to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of colon to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of ileum to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of thyroid to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of pancreas to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of penis to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of duodenum to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of pharynx to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of minor salivary gland to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of jejunum to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of stomach to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of ampulla of Vater to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of oral mucosa to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of nasal sinus to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of oral soft tissue to nerve |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of nose to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Fungal neuritis |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Bacterial neuritis |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Presence of direct invasion by primary malignant neoplasm of prostate to nerve (observable entity) |
This attribute specifies that the process which the property characterizes has led to the inclusion of a previously not included structure. |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
4 |
| Neuropathy due to obesity |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Paresthesia of saddle area |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare autosomal dominant distal hereditary motor neuropathy disease characterised by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseous muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Nerve pedicle transfer, first stage |
Procedure site - Direct (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A denervation done using chemicals |
Procedure site - Indirect (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A denervation done using chemicals |
Procedure site - Direct (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| Injection of neurolytic nerve agent |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Chemodenervation of extraocular muscle |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
3 |
| Injection of spinal neurolytic agent |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
3 |
| Cervical chemical sympathectomy |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
3 |
| Injection of neurolytic substance to abdominal cutaneous nerve |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Cervical subdural neurolysis |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Thoracic subdural neurolysis |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Lumbar subdural neurolysis |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Injection of neurolytic agent into sympathetic nerve |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
3 |
| Injection of neurolytic substance to anococcygeal nerve |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Subdural neurolysis |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
3 |
| Stereotactic injection of alcohol to Gasserian ganglion |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
3 |
| Injection of neurolytic substance to peripheral nerve (procedure) |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Injection of neurolytic substance into trigeminal ganglion |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Injection of neurolytic to dorsal root ganglion |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Chemodenervation of orbicularis oculi (procedure) |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
3 |
| Injection of neurolytic substance to intercostal nerve (procedure) |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Injection of neurolytic substance into superior hypogastric plexus (procedure) |
Procedure site - Direct (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
2 |
| Chemodenervation of internal sphincter muscle of anus (procedure) |
Procedure site - Indirect (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Denervation of joint |
Procedure site - Direct (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Chemodenervation of internal sphincter muscle of anus (procedure) |
Procedure site - Direct (attribute) |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| Intracranial nerve structure |
Is a |
True |
Nerve structure |
Inferred relationship |
Some |
|
| Chemical denervation of spinal facet joint of cervical vertebra |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
4 |
| Chemical denervation of spinal facet joint of thoracic vertebra |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
5 |
| Chemical denervation of spinal facet joint of lumbar vertebra |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
5 |
| Chemical denervation of spinal facet joint of vertebra |
Procedure site - Indirect (attribute) |
False |
Nerve structure |
Inferred relationship |
Some |
4 |
| A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
4 |
| A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
2 |
| Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
| Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Injection site paresthesia |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
3 |
| Hereditary sensory autonomic neuropathy type IIC |
Finding site |
True |
Nerve structure |
Inferred relationship |
Some |
1 |
| Impairment of motor nerve function as a complication of cutaneous surgery |
Finding site |
True |
Nerve 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]