Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hereditary sensory and autonomic neuropathy type II (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial amyloid neuropathy, Finnish type |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypomyelinogenesis congenita |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial amyloid polyneuropathy, type VI |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial amyloid polyneuropathy, type II |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypomyelinating neuropathy |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial amyloid polyneuropathy, Jewish type |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lattice corneal dystrophy |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lattice corneal dystrophy Type I |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lattice corneal dystrophy Type III |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Revision of peripheral neurostimulator electrodes (procedure) |
Procedure site - Direct (attribute) |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Revision of peripheral neurostimulator receiver (procedure) |
Procedure site - Direct (attribute) |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Revision of peripheral neurostimulator receiver (procedure) |
Procedure site - Direct (attribute) |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acoustic reflex testing |
Procedure site - Direct (attribute) |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Revision of peripheral neurostimulator electrodes (procedure) |
Procedure site - Direct (attribute) |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tendon reflex time recording (procedure) |
Procedure site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Quantitative sensory test |
Procedure site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Stretch reflex studies |
Procedure site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reflex studies (procedure) |
Procedure site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sacral reflex studies |
Procedure site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Long latency reflex studies |
Procedure site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Peripheral neurophysiological procedures |
Procedure site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Perineal neuralgia |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Facial neuralgia |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Peripheral neuropathy with type 2 diabetes |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Diabetic peripheral neuropathy associated with type I diabetes mellitus |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of nerve root and/or plexus |
Is a |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neuropathy due to vitamin B12 deficiency (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neuropathy due to vitamin B deficiency (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Phantom limb (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Phantom limb syndrome without pain |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Supernumerary phantom limb (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Phantom limb syndrome with pain (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Andermann syndrome |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ataxia with vitamin E deficiency (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital cataracts, facial dysmorphism and neuropathy |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital hypomyelinating neuropathy |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Developmental displacement of brachial plexus |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypomyelinogenesis congenita |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Aganglionosis of parasympathetic nerve ganglia (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital anomaly of the peripheral nervous system |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital neuropathy with arthrogryposis multiplex congenita |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Late congenital syphilitic polyneuropathy (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
polyneuropathie congénitale |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital anomaly of the peripheral nervous system |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Peripheral sensory neuropathy due to type 2 diabetes mellitus |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sensory neuropathy due to type 1 diabetes mellitus (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Phantom pain (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Phantom pain following excision of eye |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Phantom pain following amputation of penis (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Phantom pain following amputation of lower limb |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Phantom pain following amputation of upper limb |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital cataracts, facial dysmorphism and neuropathy |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Complex regional pain syndrome of upper limb (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Algodystrophy of knee |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Complex regional pain syndrome, Type I, of head and/or trunk |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Algodystrophy of foot |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cervical sympathetic paralysis |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Reflex sympathetic dystrophy of lower extremity |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Reflex sympathetic dystrophy of upper extremity |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Posttraumatic osteoporosis |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Idiopathic peripheral autonomic neuropathy |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Algodystrophy of hand |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Segmental neuralgia as late effect of traumatic injury |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neuralgia co-occurrent with human immunodeficiency virus infection |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of peripheral nervous system co-occurrent with human immunodeficiency virus infection (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type 4 |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterised by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease type 4D |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease type 4G (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease type 4B2 (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease type 4F (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Charcot-Marie-Tooth disease type 4B1 (disorder) |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary thermosensitive neuropathy |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary motor and sensory neuropathy Okinawa type (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type IE (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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 |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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 |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type ID (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type IF |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type 2B2 |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Charcot-Marie-Tooth disease type 2H |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterised by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR). |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary sensory and autonomic neuropathy with spastic paraplegia |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |