2551000146109: simpele referentieset met zeldzame neuromusculaire aandoeningen (metadata)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Simple type reference set (foundation metadata concept)\Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2015. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)	Is a	Simple type reference set (foundation metadata concept)	true	Inferred relationship	Some

Members

Central core disease

Critical illness polyneuropathy

Critical illness myopathy (disorder)

Eichsfeld type congenital muscular dystrophy

Stiff person spectrum disorder (disorder)

Becker muscular dystrophy (disorder)

Bell's palsy

Bethlem myopathy (disorder)

Borrelia infection of central nervous system (disorder)

Brody myopathy

Duchenne muscular dystrophy

Erb-Duchenne paralysis

Friedreich ataxia

Guillain-Barré syndrome

Kearns-Sayre syndrome (disorder)

Eaton-Lambert syndrome

Eaton Lambert syndrome with underlying malignancy

Lyme radiculitis (disorder)

Fisher's syndrome

POEMS syndrome

X-linked muscular dystrophy with limb girdle distribution

X-linked hereditary motor and sensory neuropathy

Neuromuscular junction disorder

Disorder of the peripheral nervous system

Disorder of nerve root due to metastases (disorder)

Acute motor axonal neuropathy (disorder)

Acute motor sensory axonal Guillain-Barré syndrome (disorder)

Acute poliomyelitis (disorder)

Alcoholic polyneuropathy

Alcohol myopathy

Amyloid myopathy

Amyotrophy due to cervical spinal stenosis (disorder)

Amyotrophic lateral sclerosis

Neuralgic amyotrophy

Autoimmune rippling muscle disease (disorder)

Autoimmune disorder of neuromuscular transmission (disorder)

Autosomal dominant muscular dystrophy with limb girdle distribution

Autosomal dominant hereditary motor neuron disease (disorder)

Autosomal dominant hereditary spinal muscular atrophy (disorder)

Autosomal recessive muscular dystrophy with limb girdle distribution

Autosomal recessive hereditary motor neuron disease (disorder)

Bulbospinal neuronopathy

Neuropathy associated with burning feet syndrome (disorder)

Carpal tunnel syndrome due to amyloid deposition (disorder)

Chronic idiopathic ataxic neuropathy (disorder)

Axonal sensorimotor polyneuropathy (disorder)

Idiopathic chronic neuropathy

Chronic inflammatory demyelinating polyradiculoneuropathy

Congenital amyoplasia (disorder)

Congenital myasthenic syndrome (disorder)

Congenital myopathy with fibre type disproportion

Congenital polyneuropathy

Ullrich congenital muscular dystrophy

Muscle contracture

Polyneuropathy due to cytostatics (disorder)

Carnitine palmitoyltransferase deficiency

Dermatomyositis (disorder)

Distal muscular dystrophy

Distal spinal muscular atrophy

Manifesting female carrier of X-linked muscular dystrophy

Femoral nerve compression

Entrapment of common peroneal nerve

Compression neuropathy of deep peroneal nerve (disorder)

Small fiber neuropathy (disorder)

Guillain-Barre syndrome, dysautonomic variant (disorder)

Endocrine myopathy

Hereditary liability to pressure palsies

Facioscapulohumeral muscular dystrophy (disorder)

Amyloid polyneuropathy type I (disorder)

Familial periodic paralysis

Glycogen storage disease due to acid maltase deficiency

Glycogen storage disease, type VII

Hereditary motor and sensory neuropathy (disorder)

Charcot-Marie-Tooth disease, type I (disorder)

Charcot-Marie-Tooth disease, type IA

Charcot-Marie-Tooth disease, type II (disorder)

HSMN IV

Hereditary motor and sensory neuropathy type 5 (disorder)

Hereditary myopathy (disorder)

Hereditary neuralgic amyotrophy (disorder)

Hereditary sensory and autonomic neuropathy

Creatine kinase level above reference range

Familial hyperkalemic periodic paralysis (disorder)

Familial hypokalemic periodic paralysis

Idiopathic myoglobinuria

Inclusion body myositis

Motor neuron disease due to infectious disease (disorder)

Infectious disorder of muscle

Infectious disorder of the peripheral nervous system

Inflammatory neuropathy

Ischaemic neuropathy

Anterior horn cell disease due to ischemia (disorder)

Juvenile nonprogressive spinal muscular atrophy (disorder)

Nerve injury

Malignant hyperthermia

Drug-induced myopathy

Polyneuropathy caused by drug (disorder)

Meralgia paresthetica

Merosin deficient congenital muscular dystrophy

Metabolic myopathy

Morton's metatarsalgia

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Reference Sets

Reference set descriptor

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Id	Description	Lang	Type	Status	Case?	Module
11401000146116	ISNO simple reference set for rare neuromuscular disorders	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
243001000146112	Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
243011000146114	Dutch rare neuromuscular disorders simple reference set	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8157091000146119	ISNO-set	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12578631000146114	referentieset met zeldzame neuromusculaire aandoeningen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12578641000146118	simpele referentieset met zeldzame neuromusculaire aandoeningen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12578651000146115	simpele referentieset met zeldzame neuromusculaire aandoeningen (metadata)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12578661000146117	ISNO-referentieset met zeldzame neuromusculaire aandoeningen	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)