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3058005: Peripheral nervous system structure (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
6178013 Peripheral nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484640017 Peripheral nervous system structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
761600011 Peripheral nervous system structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2579326017 PNS - Peripheral nervous system en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
282491000077110 structure du système nerveux périphérique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896051000172110 système nerveux périphérique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
926641000172119 systema nervosum periphericum fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984201000172117 pars peripherica fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2018 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Peripheral nervous system structure Is a Entire subdivision of nervous system (body structure) false Inferred relationship Some
Peripheral nervous system structure partie de Entire nervous system false Additional relationship Some
Peripheral nervous system structure Is a Structure of nervous system (body structure) false Inferred relationship Some
Peripheral nervous system structure Is a Structure of subdivision of nervous system (body structure) true Inferred relationship Some
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 Some 2
Familial amyloid neuropathy, Finnish type Finding site False Peripheral nervous system structure Inferred relationship Some 1
Hypomyelinogenesis congenita Finding site False Peripheral nervous system structure Inferred relationship Some 1
Familial amyloid polyneuropathy, type VI Finding site False Peripheral nervous system structure Inferred relationship Some 1
Familial amyloid polyneuropathy, type II Finding site False Peripheral nervous system structure Inferred relationship Some 1
Congenital hypomyelinating neuropathy Finding site False Peripheral nervous system structure Inferred relationship Some 1
Familial amyloid polyneuropathy, Jewish type Finding site False Peripheral nervous system structure Inferred relationship Some 1
Lattice corneal dystrophy (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some 2
Lattice corneal dystrophy Type I (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some 2
Lattice corneal dystrophy Type III Finding site False Peripheral nervous system structure Inferred relationship Some 2
Revision of peripheral neurostimulator electrodes Procedure site - Direct (attribute) False Peripheral nervous system structure Inferred relationship Some 1
Revision of peripheral neurostimulator receiver Procedure site - Direct (attribute) False Peripheral nervous system structure Inferred relationship Some 1
Revision of peripheral neurostimulator receiver Procedure site - Direct (attribute) False Peripheral nervous system structure Inferred relationship Some 1
Acoustic reflex testing Procedure site - Direct (attribute) True Peripheral nervous system structure Inferred relationship Some 1
Revision of peripheral neurostimulator electrodes Procedure site - Direct (attribute) False Peripheral nervous system structure Inferred relationship Some 1
Tendon reflex time recording Procedure site True Peripheral nervous system structure Inferred relationship Some 1
Quantitative sensory test Procedure site True Peripheral nervous system structure Inferred relationship Some 1
Stretch reflex studies Procedure site True Peripheral nervous system structure Inferred relationship Some 1
Reflex studies Procedure site True Peripheral nervous system structure Inferred relationship Some 1
Sacral reflex studies Procedure site True Peripheral nervous system structure Inferred relationship Some 1
Long latency reflex studies Procedure site True Peripheral nervous system structure Inferred relationship Some 1
Peripheral neurophysiological procedures Procedure site True Peripheral nervous system structure Inferred relationship Some 1
Perineal neuralgia (finding) Finding site False Peripheral nervous system structure Inferred relationship Some
Facial neuralgia Finding site False Peripheral nervous system structure Inferred relationship Some
Peripheral neuropathy due to type 2 diabetes mellitus (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some
Diabetic peripheral neuropathy associated with type I diabetes mellitus Finding site False Peripheral nervous system structure Inferred relationship Some
Structure of nerve root and/or plexus Is a True Peripheral nervous system structure Inferred relationship Some
Neuropathy due to vitamin B12 deficiency (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some
Neuropathy due to vitamin B deficiency (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some
Persistent postural and motor experiences of the limb after physical loss. Finding site True Peripheral nervous system structure Inferred relationship Some 2
Awareness of external senses of the limb after physical loss. Finding site True Peripheral nervous system structure Inferred relationship Some 2
Awareness of an illusory extra limb in addition to the real regular limbs. Finding site True Peripheral nervous system structure Inferred relationship Some 2
Phantom limb syndrome with pain (disorder) Finding site True Peripheral nervous system structure Inferred relationship Some 2
Andermann syndrome Finding site True Peripheral nervous system structure Inferred relationship Some 1
Ataxia with vitamin E deficiency (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Finding site False Peripheral nervous system structure Inferred relationship Some 3
Congenital hypomyelinating neuropathy Finding site False Peripheral nervous system structure Inferred relationship Some 2
Developmental displacement of brachial plexus Finding site False Peripheral nervous system structure Inferred relationship Some 2
Hypomyelinogenesis congenita Finding site False Peripheral nervous system structure Inferred relationship Some 2
Aganglionosis of parasympathetic nerve ganglia Finding site False Peripheral nervous system structure Inferred relationship Some 2
Congenital anomaly of the peripheral nervous system Finding site False Peripheral nervous system structure Inferred relationship Some 2
Congenital neuropathy with arthrogryposis multiplex congenita Finding site False Peripheral nervous system structure Inferred relationship Some 3
Late congenital syphilitic polyneuropathy Finding site False Peripheral nervous system structure Inferred relationship Some 3
Congenital polyneuropathy Finding site False Peripheral nervous system structure Inferred relationship Some 1
Congenital anomaly of the peripheral nervous system Finding site True Peripheral nervous system structure Inferred relationship Some 1
Peripheral sensory neuropathy due to type 2 diabetes mellitus Finding site False Peripheral nervous system structure Inferred relationship Some
Sensory neuropathy due to type 1 diabetes mellitus (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some
Pain felt as if it were arising in an absent or amputated limb, organ or body part. Finding site False Peripheral nervous system structure Inferred relationship Some
Phantom pain following excision of eye Finding site False Peripheral nervous system structure Inferred relationship Some
Phantom pain following amputation of penis (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some
Phantom pain following amputation of lower limb (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some
Phantom pain following amputation of upper limb Finding site False Peripheral nervous system structure Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Finding site True Peripheral nervous system structure Inferred relationship Some 2
Complex regional pain syndrome of upper limb (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some
Algodystrophy of knee Finding site False Peripheral nervous system structure Inferred relationship Some
Complex regional pain syndrome, Type I, of head and/or trunk Finding site False Peripheral nervous system structure Inferred relationship Some
Algodystrophy of foot Finding site False Peripheral nervous system structure Inferred relationship Some
Paralysis of cervical sympathetic trunk (disorder) Finding site False Peripheral nervous system structure Inferred relationship Some 2
Reflex sympathetic dystrophy of lower extremity Finding site False Peripheral nervous system structure Inferred relationship Some
Reflex sympathetic dystrophy of upper extremity Finding site False Peripheral nervous system structure Inferred relationship Some
Posttraumatic osteoporosis Finding site False Peripheral nervous system structure Inferred relationship Some
Idiopathic peripheral autonomic neuropathy Finding site False Peripheral nervous system structure Inferred relationship Some 2
Algodystrophy of hand Finding site False Peripheral nervous system structure Inferred relationship Some
Segmental neuralgia as late effect of traumatic injury Finding site False Peripheral nervous system structure Inferred relationship Some
Neuralgia co-occurrent with human immunodeficiency virus infection Finding site False Peripheral nervous system structure Inferred relationship Some
Disorder of peripheral nervous system co-occurrent with human immunodeficiency virus infection Finding site True Peripheral nervous system structure Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. Finding site False Peripheral nervous system structure Inferred relationship Some
Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized 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 Some
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 Some
Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. Finding site False Peripheral nervous system structure Inferred relationship Some
Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. Finding site False Peripheral nervous system structure Inferred relationship Some
Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. Finding site False Peripheral nervous system structure Inferred relationship Some
Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterised by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. Finding site False Peripheral nervous system structure Inferred relationship Some
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 Some
Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). Finding site False Peripheral nervous system structure Inferred relationship Some
Hereditary thermosensitive neuropathy (disorder) Finding site True Peripheral nervous system structure Inferred relationship Some 1
Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. Finding site True Peripheral nervous system structure Inferred relationship Some 1
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. Finding site True Peripheral nervous system structure Inferred relationship Some 2
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. Finding site True Peripheral nervous system structure Inferred relationship Some 1
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. Finding site True Peripheral nervous system structure Inferred relationship Some 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 Some 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 Some 1
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. Finding site True Peripheral nervous system structure Inferred relationship Some 1
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. Finding site True Peripheral nervous system structure Inferred relationship Some 1
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Some 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 Some 1
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 Peripheral nervous system structure Inferred relationship Some 1
An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy. Finding site True Peripheral nervous system structure Inferred relationship Some 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 Some 1
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 Peripheral nervous system structure Inferred relationship Some 1
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 Peripheral nervous system structure Inferred relationship Some 1
Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. Finding site True Peripheral nervous system structure Inferred relationship Some 1
Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the demyelinating form of CMT2E and is caused by mutations in the NEFL gene (8p21.2). Finding site True Peripheral nervous system structure Inferred relationship Some 1
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 Peripheral nervous system structure Inferred relationship Some 1
A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. Finding site True Peripheral nervous system structure Inferred relationship Some 3
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 Peripheral nervous system structure Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized 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 Some
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 Some
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 Peripheral nervous system structure Inferred relationship Some 2
This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. Finding site True Peripheral nervous system structure Inferred relationship Some 2
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 Peripheral nervous system structure Inferred relationship Some 4

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