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

Morton's metatarsalgia

Migrant sensory neuritis of Wartenberg (disorder)

Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder)

Mononeuropathy

Diabetic mononeuropathy

Motor neuron disease

Motor neuron disease due to chemical or external agent (disorder)

Motor neuron disease associated with monoclonal paraproteinemia (disorder)

Multi-core congenital myopathy

Motor neuropathy with multiple conduction block

Muscle pain

Myasthenia gravis caused by MuSK antibodies (disorder)

Myasthenia gravis caused by AChR antibodies (disorder)

Myasthenia gravis associated with thymoma

Myofibrillar myopathy

Myoclonic epilepsy with ragged red fibers

Disorder of muscle

Steroid-induced myopathy

Glycogen storage disease, muscular form

Zebra body myopathy

Myopathy with cytoplasmic inclusions

Myopathy with tubular aggregates

Steinert myotonic dystrophy syndrome

Congenital myotonia, autosomal recessive form

Congenital myotonia, autosomal dominant form

Myotubular myopathy

Nemaline myopathy

Neonatal myasthenia gravis

Isaacs syndrome

Neuropathy associated with Churg-Strauss syndrome (disorder)

Neuropathy associated with IgG and IgA paraproteinaemia (disorder)

Neuropathy associated with IgM paraproteinaemia

Neuropathy in cryoglobulinemia

Neuropathy associated with endocrine disorder

Neuropathy associated with granulomatosis with polyangiitis (disorder)

Hepatic neuropathy

Non-systemic vasculitic neuropathy (disorder)

Neuropathy associated with paraproteinemia (disorder)

Neuropathy associated with hypervitaminosis B6 (disorder)

Sarcoid neuropathy

Neuropathy associated with thyroid disorder (disorder)

Neuropathy associated with metabolic disease (disorder)

Neuropathy associated with systemic sclerosis (disorder)

Systemic vasculitic neuropathy (disorder)

Neuropathy associated with thrombotic thrombocytopenic purpura

Vitamin deficiency related neuropathy

Neuropathy associated with Sjögren's syndrome (disorder)

Neuropathy due to hematological disorder (disorder)

Neuropathy caused by human immunodeficiency virus

Neuropathy caused by ionising radiation

Neuropathy associated with localized tumor configuration (disorder)

Neuropathy caused by organic substance

Neuropathy associated with connective tissue disorder (disorder)

Intercostal neuropathy

Oculopharyngeal muscular dystrophy

Paramyotonia congenita

Paraneoplastic motor neurone disease

Carcinomatous myopathic syndrome

Paraneoplastic neuropathy

Peripheral nerve entrapment syndrome (disorder)

Plexopathy associated with localized tumour configuration (disorder)

Polymyalgia rheumatica

Polymyositis

Polyneuropathy in polyarteritis nodosa (disorder)

Polyneuropathy in rheumatoid arthritis

Polyneuropathy in disseminated lupus erythematosus

Polyneuropathy due to diabetes mellitus

Post poliomyelitis syndrome

Progressive bulbar palsy

Progressive external ophthalmoplegia

Progressive muscular atrophy

Proximal myotonic myopathy (disorder)

Rhabdomyolysis

Nerve root disorder

Sarcoidosis

Scapuloperoneal spinal muscular atrophy

Benign monomelic amyotrophy

Muscle atrophy

Muscular dystrophy

Emery-Dreifuss muscular dystrophy

Muscle hypertrophy

Cramp

Benign fasciculation-cramp syndrome

Muscle fatigue

Myotonic disorder

Muscle weakness

Werdnig-Hoffmann disease

Spinal muscular atrophy, type II

Kugelberg-Welander disease

Adult spinal muscular atrophy

Spinocerebellar ataxia

Thyrotoxic periodic paralysis

Toxic neuromuscular junction disorder

Toxic myopathy

Toxic polyneuropathy

Vasculitic neuropathy (disorder)

Acquired disorder of nerve root due to congenital vascular malformation

Acquired disorder of nerve root due to neurofibroma (disorder)

Acquired disorder of nerve root due to neoplasm (disorder)

Glycogen storage disease, type V

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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)