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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
6178013 Peripheral nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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

1998 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 Existential restriction modifier (core metadata concept)
Peripheral nervous system structure partie de Entire nervous system (body structure) false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Peripheral nervous system structure Is a Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral nervous system structure Is a Structure of subdivision of nervous system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec). Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary malignant nerve sheath neoplasm of peripheral nervous system structure (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Metastatic malignant neoplasm of peripheral nervous system (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 2B1 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site False Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Complex regional pain syndrome, type II (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Complex regional pain syndrome type I (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 True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 4D Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 4G (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 4B2 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 4F (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 4B1 (disorder) 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 True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 4E (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 4B3 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked Charcot-Marie-Tooth disease type 6 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked hereditary motor and sensory neuropathy Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked Charcot-Marie-Tooth disease type 4 Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked Charcot-Marie-Tooth disease type 2 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked Charcot-Marie-Tooth disease type 3 Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy. Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus, complex motor and sensory axonal neuropathy syndrome Finding site False Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare form of axonal peripheral sensorimotor neuropathy characterised by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant slowed nerve conduction velocity (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder) Finding site False Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) Finding site False Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. Finding site False Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder) Finding site False Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary motor and sensory neuropathy type 5 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary motor and sensory neuropathy with acrodystrophy Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease type 2B5 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 3
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 True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Charcot-Marie-Tooth disease type 2R (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Periodic paralysis with transient compartment-like syndrome (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Periodic paralysis with later-onset distal motor neuropathy Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paresthesia in toes, heels and ankles. Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant Charcot-Marie-Tooth disease type 2O Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Infectious disorder of the peripheral nervous system Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory and autonomic neuropathy type 7 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease type 2P (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Schwartz-Jampel syndrome Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Roussy-Lévy syndrome Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary autonomic neuropathy (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory autonomic neuropathy type IIA Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory autonomic neuropathy type IIB Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory autonomic neuropathy type ID (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory autonomic neuropathy type IE Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory autonomic neuropathy type IA Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory autonomic neuropathy type IC (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Huntington's chorea Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Juvenile onset Huntington's disease Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Late onset Huntington's disease (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Akinetic-rigid form of Huntington's disease Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypertrophic interstitial neuropathy (disorder) Finding site False Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Déjérine-Sottas disease Finding site False Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Neonatal hypotonia Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Neonatal neuromuscular disorder Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, complex motor and sensory axonal neuropathy syndrome Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive Charcot-Marie-Tooth disease type 2 Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive distal hereditary motor neuropathy (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant distal hereditary motor neuropathy (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked distal hereditary motor neuropathy Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant Charcot-Marie-Tooth disease type 2 Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive distal spinal muscular atrophy type 3 Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal hereditary motor neuropathy Jerash type (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Young adult-onset distal hereditary motor neuropathy Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinal muscular atrophy with respiratory distress type 1 Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 17 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal hereditary motor neuropathy type 1 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal hereditary motor neuropathy type 7 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant congenital benign spinal muscular atrophy Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 4
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 Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked distal spinal muscular atrophy type 3 (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked distal arthrogryposis multiplex congenita (disorder) Finding site True Peripheral nervous system structure Inferred relationship Existential restriction modifier (core metadata concept) 3

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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