| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. |
Finding site |
True |
Peripheral nervous system 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain. |
Finding site |
True |
Peripheral nervous system 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described. |
Finding site |
True |
Peripheral nervous system 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
5 |
| A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifesting with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near-normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| 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 |
Peripheral nervous system 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| 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 |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Hereditary sensory autonomic neuropathy type IIC |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Peripheral neurostimulator |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Spinal neuropacemaker |
This attribute represents the site where the device is intended to reside in or on the body. |
False |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Analgesic implantable peripheral nerve electrical stimulation system (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Somatosensory electrical stimulation system (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Diagnostic peripheral nerve electrical stimulation system |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Carotid sinus nerve electrical stimulation system (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Gait-enhancement electrical stimulation system, external (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Gait-enhancement electrical stimulation system, implantable |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Intramuscular diaphragm/phrenic nerve electrical stimulation system |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Extramuscular diaphragm/phrenic nerve electrical stimulation system (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Analgesic TENS system |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Arthritis TENS system |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Implantable sleep apnoea treatment system |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Trigeminal nerve electrical stimulator |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Analgesic peripheral electrical nerve stimulator system |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Non-invasive psychiatric-therapy electrical stimulation system |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Diaphragm/phrenic nerve electrical stimulation system |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Transcutaneous electrical neural stimulation system |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Transcutaneous electrical nerve stimulation wristband (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Opioid withdrawal electrical stimulator |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Intranasal lacrimal neurostimulator (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Video-camera tongue electrical stimulation system (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Hypertension control median nerve electrical stimulator |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Tremor suppression transcutaneous electrical stimulation wristband (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
| Friedreich ataxia |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity, and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Revision of peripheral neurostimulator electrodes |
Procedure site - Indirect (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Revision of peripheral neurostimulator receiver |
Procedure site - Indirect (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A clinically heterogeneous progressive condition characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
5 |
| A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| Posterior cord syndrome due to Friedreich ataxia (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
5 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| Autosomal recessive central core disease |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| Autosomal dominant central core disease (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| Structure of nervous system ganglion |
Is a |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
|
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