257277002: Combined disorder of muscle AND peripheral nerve (disorder)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myoneural disorder	Is a	Disorder of the peripheral nervous system	true	Inferred relationship	Some
Myoneural disorder	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Myoneural disorder	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Myoneural disorder	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of neuromuscular transmission	Is a	False	Myoneural disorder	Inferred relationship	Some
Generalized neuromuscular exhaustion syndrome	Is a	True	Myoneural disorder	Inferred relationship	Some
Compartment syndrome of upper arm due to traumatic injury (disorder)	Is a	False	Myoneural disorder	Inferred relationship	Some
Compartment syndrome of forearm due to traumatic injury (disorder)	Is a	False	Myoneural disorder	Inferred relationship	Some
Compartment syndrome of hand due to traumatic injury	Is a	False	Myoneural disorder	Inferred relationship	Some
Compartment syndrome of lower limb due to traumatic injury (disorder)	Is a	False	Myoneural disorder	Inferred relationship	Some
Compartment syndrome of neck due to traumatic injury	Is a	False	Myoneural disorder	Inferred relationship	Some
Psoas compartment syndrome due to traumatic injury (disorder)	Is a	False	Myoneural disorder	Inferred relationship	Some
Myasthenia gravis, adult form	Is a	False	Myoneural disorder	Inferred relationship	Some
Lumbosacral radiculoplexus neuropathy due to diabetes mellitus (disorder)	Is a	False	Myoneural disorder	Inferred relationship	Some
Charcot-Marie-Tooths sygdom	Is a	False	Myoneural disorder	Inferred relationship	Some
Myasthenia gravis, juvenile form	Is a	False	Myoneural disorder	Inferred relationship	Some
Drug-induced myasthenia	Is a	True	Myoneural disorder	Inferred relationship	Some
Neonatal myasthenia	Is a	False	Myoneural disorder	Inferred relationship	Some
Dancing doberman disease	Is a	False	Myoneural disorder	Inferred relationship	Some
Slow channel syndrome	Is a	True	Myoneural disorder	Inferred relationship	Some
Myopathy in myasthenia gravis	Is a	True	Myoneural disorder	Inferred relationship	Some
Toxic neuromuscular junction disorder	Is a	False	Myoneural disorder	Inferred relationship	Some
Eaton-Lambert syndrome	Is a	True	Myoneural disorder	Inferred relationship	Some
Amyotonia congenita	Is a	True	Myoneural disorder	Inferred relationship	Some
Myasthenia gravis	Is a	True	Myoneural disorder	Inferred relationship	Some
Myasthenic syndrome due to another disorder (disorder)	Is a	False	Myoneural disorder	Inferred relationship	Some
[X]Diseases of myoneural junction and muscle	Is a	False	Myoneural disorder	Inferred relationship	Some
Infection caused by Clostridium botulinum	Is a	False	Myoneural disorder	Inferred relationship	Some
Neonatal neuromuscular disorder	Is a	True	Myoneural disorder	Inferred relationship	Some
Myasthenic syndrome due to diabetic mellitus (disorder)	Is a	False	Myoneural disorder	Inferred relationship	Some
Roussy-Levy's syndrom	Is a	False	Myoneural disorder	Inferred relationship	Some
Neuralgic amyotrophy	Is a	True	Myoneural disorder	Inferred relationship	Some
Hypertrofisk kardiomyopati sekundær til neuromuskulær sygdom	Due to	False	Myoneural disorder	Inferred relationship	Some	2
Cardiomyopathy due to neuromuscular disorder (disorder)	Due to	True	Myoneural disorder	Inferred relationship	Some	1
Congenital end-plate acetylcholinesterase deficiency	Is a	False	Myoneural disorder	Inferred relationship	Some
Restrictive lung mechanics due to neuromuscular disease	Due to	True	Myoneural disorder	Inferred relationship	Some	1
Jaw-winking syndrome	Is a	True	Myoneural disorder	Inferred relationship	Some
Reflex blepharospasm (disorder)	Is a	True	Myoneural disorder	Inferred relationship	Some
Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.	Is a	True	Myoneural disorder	Inferred relationship	Some
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	Is a	True	Myoneural disorder	Inferred relationship	Some
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.	Is a	True	Myoneural disorder	Inferred relationship	Some
A rare hereditary motor and sensory neuropathy with characteristics of flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	Is a	True	Myoneural disorder	Inferred relationship	Some
A rare genetic neuromuscular disease characterised by normokalaemic episodes of painful muscle cramping followed by progressive permanent flaccid weakness. Triggered by stress, cold and exercise and associated with myopathic myopathy and painful acute oedema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.	Is a	True	Myoneural disorder	Inferred relationship	Some
A rare genetic neuromuscular disease with characteristics of acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset chronic slowly progressive distal axonal neuropathy.	Is a	True	Myoneural disorder	Inferred relationship	Some
Pelagic paralysis	Is a	True	Myoneural disorder	Inferred relationship	Some
A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13.	Is a	True	Myoneural disorder	Inferred relationship	Some
A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.	Is a	True	Myoneural disorder	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Myoneural disorder	Inferred relationship	Some
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.	Is a	True	Myoneural disorder	Inferred relationship	Some
Huntington's chorea	Is a	True	Myoneural disorder	Inferred relationship	Some
Scalenus anticus syndrome	Is a	False	Myoneural disorder	Inferred relationship	Some
Hypertrophic cardiomyopathy due to neuromuscular disorder	Due to	True	Myoneural disorder	Inferred relationship	Some	2
Dilated cardiomyopathy due to neuromuscular disorder (disorder)	Due to	True	Myoneural disorder	Inferred relationship	Some	2
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.	Is a	True	Myoneural disorder	Inferred relationship	Some
Lordosis deformity of spine due to neuromuscular disorder	Due to	True	Myoneural disorder	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.	Is a	True	Myoneural disorder	Inferred relationship	Some
A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	Is a	True	Myoneural disorder	Inferred relationship	Some
Chronic respiratory failure due to neuromuscular disease (disorder)	Due to	True	Myoneural disorder	Inferred relationship	Some	3
Spastic diplegia of upper limbs (disorder)	Is a	True	Myoneural disorder	Inferred relationship	Some
A rare acquired peripheral neuropathy with characteristics of progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses.	Is a	True	Myoneural disorder	Inferred relationship	Some
A clinically heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load.	Is a	True	Myoneural disorder	Inferred relationship	Some
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.	Is a	True	Myoneural disorder	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
383066010	Myoneural disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
648550012	Combined disorder of muscle AND peripheral nerve (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2669851011	Combined disorder of muscle AND peripheral nerve	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3078548014	Neuromuscular disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2648651000005115	Myoneural sygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)