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Resource ValueSet/FHIR Server from package us.nlm.vsac#0.21.0 (313 ms)

Package us.nlm.vsac
Type ValueSet
Id Id
FHIR Version R4
Source http://fhir.org/packages/us.nlm.vsac/https://vsac.nlm.nih.gov/valueset/2.16.840.1.113762.1.4.1248.238/expansion
Url http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1248.238
Version 20230923
Status active
Date 2023-09-23T01:01:29-04:00
Name NeuromuscularDisorder
Title Neuromuscular Disorder
Experimental False
Realm us
Authority hl7
Description SNOMEDCT codes listed align with the ICD10CM codes in PSI 11 Neuromuscular disorder diagnosis list (NEUROMD)
Purpose (Clinical Focus: The purpose of this value set is to represent concepts for neuromuscular disorders),(Data Element Scope: This value set may use a model element related to Diagnosis or Condition),(Inclusion Criteria: Includes concepts that represent neuromuscular disorders such as Guillain-Barre syndrome, myasthenia gravis, myasthenia, Lambert-Eaton syndrome, muscular dystrophy, myotonic disorders, myopathies, and myositis),(Exclusion Criteria: N/A)

Resources that use this resource

ValueSet
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1248.239 Neuromuscular Disorder

Resources that this resource uses

CodeSystem
http://snomed.info/sct SNOMED CT (all versions)
http://snomed.info/sct SNOMED CT
http://snomed.info/sct veri

Source

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  "id" : "2.16.840.1.113762.1.4.1248.238",
  "meta" : {
    "versionId" : "12",
    "lastUpdated" : "2024-02-22T14:54:30.000-05:00",
    "profile" : [
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      "http://hl7.org/fhir/us/cqfmeasures/StructureDefinition/computable-valueset-cqfm",
      "http://hl7.org/fhir/us/cqfmeasures/StructureDefinition/publishable-valueset-cqfm"
    ]
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/valueset-author",
      "valueContactDetail" : {
        "name" : "Mathematica PSI Author"
      }
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/resource-lastReviewDate",
      "valueDate" : "2024-01-24"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/valueset-effectiveDate",
      "valueDate" : "2023-09-23"
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  ],
  "url" : "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1248.238",
  "identifier" : [
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      "value" : "urn:oid:2.16.840.1.113762.1.4.1248.238"
    }
  ],
  "version" : "20230923",
  "name" : "NeuromuscularDisorder",
  "title" : "Neuromuscular Disorder",
  "status" : "active",
  "date" : "2023-09-23T01:01:29-04:00",
  "publisher" : "Mathematica PSI Steward",
  "description" : "SNOMEDCT codes listed align with the ICD10CM codes in  PSI 11 Neuromuscular disorder diagnosis list (NEUROMD)",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
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        }
      ]
    }
  ],
  "purpose" : "(Clinical Focus: The purpose of this value set is to represent concepts for neuromuscular disorders),(Data Element Scope: This value set may use a model element related to Diagnosis or Condition),(Inclusion Criteria: Includes concepts that represent neuromuscular disorders such as Guillain-Barre syndrome, myasthenia gravis, myasthenia, Lambert-Eaton syndrome, muscular dystrophy, myotonic disorders, myopathies, and myositis),(Exclusion Criteria: N/A)",
  "compose" : {
    "include" : [
      {
        "system" : "http://snomed.info/sct",
        "concept" : [
          {
            "code" : "1010712009",
            "display" : "Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)"
          },
          {
            "code" : "103851000119100",
            "display" : "Restrictive lung disease due to amyotrophic lateral sclerosis (disorder)"
          },
          {
            "code" : "111501005",
            "display" : "Congenital hereditary muscular dystrophy (disorder)"
          },
          {
            "code" : "111502003",
            "display" : "Fukuyama congenital muscular dystrophy (disorder)"
          },
          {
            "code" : "111503008",
            "display" : "Merosin deficient congenital muscular dystrophy (disorder)"
          },
          {
            "code" : "111504002",
            "display" : "Walker-Warburg congenital muscular dystrophy (disorder)"
          },
          {
            "code" : "111505001",
            "display" : "Muscle-eye-brain disease, congenital muscular dystrophy (disorder)"
          },
          {
            "code" : "111506000",
            "display" : "Distal muscular dystrophy, Miyoshi type (disorder)"
          },
          {
            "code" : "111508004",
            "display" : "Emery-Dreifuss muscular dystrophy (disorder)"
          },
          {
            "code" : "1144926009",
            "display" : "Sporadic inclusion body myositis (disorder)"
          },
          {
            "code" : "11538006",
            "display" : "Quadriplegia (disorder)"
          },
          {
            "code" : "1156836006",
            "display" : "X-linked Emery-Dreifuss muscular dystrophy (disorder)"
          },
          {
            "code" : "1156848009",
            "display" : "Autosomal recessive Emery-Dreifuss muscular dystrophy (disorder)"
          },
          {
            "code" : "1172588008",
            "display" : "Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)"
          },
          {
            "code" : "1172688004",
            "display" : "Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder)"
          },
          {
            "code" : "1172689007",
            "display" : "Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)"
          },
          {
            "code" : "1172703004",
            "display" : "Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder)"
          },
          {
            "code" : "1177122009",
            "display" : "Myotonic dystrophy (disorder)"
          },
          {
            "code" : "1179295004",
            "display" : "Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder)"
          },
          {
            "code" : "1179297007",
            "display" : "LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder)"
          },
          {
            "code" : "1197152005",
            "display" : "Distal hereditary motor neuropathy type 5 (disorder)"
          },
          {
            "code" : "1197153000",
            "display" : "Typical nemaline myopathy (disorder)"
          },
          {
            "code" : "1197154006",
            "display" : "Childhood-onset nemaline myopathy (disorder)"
          },
          {
            "code" : "1197155007",
            "display" : "Amish nemaline myopathy (disorder)"
          },
          {
            "code" : "1197156008",
            "display" : "Intermediate nemaline myopathy (disorder)"
          },
          {
            "code" : "1197157004",
            "display" : "Severe congenital nemaline myopathy (disorder)"
          },
          {
            "code" : "1197523001",
            "display" : "Autosomal dominant amyotrophic lateral sclerosis type 1 (disorder)"
          },
          {
            "code" : "1197524007",
            "display" : "Autosomal recessive amyotrophic lateral sclerosis type 1 (disorder)"
          },
          {
            "code" : "1201863001",
            "display" : "Amyotrophic lateral sclerosis type 1 (disorder)"
          },
          {
            "code" : "1201947005",
            "display" : "Juvenile amyotrophic lateral sclerosis type 2 (disorder)"
          },
          {
            "code" : "1201950008",
            "display" : "Amyotrophic lateral sclerosis type 3 (disorder)"
          },
          {
            "code" : "1201961000",
            "display" : "Juvenile amyotrophic lateral sclerosis type 5 (disorder)"
          },
          {
            "code" : "1201964008",
            "display" : "Congenital fiber-type disproportion myopathy due to ZAK mutation (disorder)"
          },
          {
            "code" : "1202023003",
            "display" : "Congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)"
          },
          {
            "code" : "1202024009",
            "display" : "Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)"
          },
          {
            "code" : "1202025005",
            "display" : "Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)"
          },
          {
            "code" : "1204334005",
            "display" : "Amyotrophic lateral sclerosis type 6 (disorder)"
          },
          {
            "code" : "1204349002",
            "display" : "Amyotrophic lateral sclerosis type 7 (disorder)"
          },
          {
            "code" : "1204350002",
            "display" : "Amyotrophic lateral sclerosis type 8 (disorder)"
          },
          {
            "code" : "1204351003",
            "display" : "Amyotrophic lateral sclerosis type 9 (disorder)"
          },
          {
            "code" : "1208412003",
            "display" : "Amyotrophic lateral sclerosis type 10 (disorder)"
          },
          {
            "code" : "1208413008",
            "display" : "Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)"
          },
          {
            "code" : "1208414002",
            "display" : "Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)"
          },
          {
            "code" : "1208415001",
            "display" : "Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)"
          },
          {
            "code" : "1208416000",
            "display" : "Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder)"
          },
          {
            "code" : "1208417009",
            "display" : "Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder)"
          },
          {
            "code" : "1208418004",
            "display" : "Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder)"
          },
          {
            "code" : "1209168005",
            "display" : "Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder)"
          },
          {
            "code" : "1217655004",
            "display" : "Disorder of neuromuscular junction due to Lambert-Eaton syndrome (disorder)"
          },
          {
            "code" : "1230273004",
            "display" : "Megaconial congenital muscular dystrophy (disorder)"
          },
          {
            "code" : "1230343006",
            "display" : "Distal hereditary motor neuropathy type 2 (disorder)"
          },
          {
            "code" : "1231210003",
            "display" : "Mechanical strabismus due to disorder of skeletal muscle caused by local anaesthetic (disorder)"
          },
          {
            "code" : "1231685006",
            "display" : "Myopathy of extraocular muscle due to disorder of blood vessel (disorder)"
          },
          {
            "code" : "123391000119106",
            "display" : "Functional quadriplegia (disorder)"
          },
          {
            "code" : "1234819007",
            "display" : "Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder)"
          },
          {
            "code" : "1259121008",
            "display" : "Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea (disorder)"
          },
          {
            "code" : "1259122001",
            "display" : "Amyotrophic lateral sclerosis with parkinsonism (disorder)"
          },
          {
            "code" : "1259123006",
            "display" : "Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula (disorder)"
          },
          {
            "code" : "1259124000",
            "display" : "Amyotrophic lateral sclerosis with frontotemporal dementia (disorder)"
          },
          {
            "code" : "1259125004",
            "display" : "Amyotrophic lateral sclerosis with multiple system atrophy (disorder)"
          },
          {
            "code" : "1259126003",
            "display" : "Amyotrophic lateral sclerosis with autonomic dysfunction (disorder)"
          },
          {
            "code" : "1259127007",
            "display" : "Amyotrophic lateral sclerosis with cerebellar dysfunction (disorder)"
          },
          {
            "code" : "1259129005",
            "display" : "Amyotrophic lateral sclerosis with spinocerebellar ataxia (disorder)"
          },
          {
            "code" : "128212001",
            "display" : "Spinal muscular atrophy, type II (disorder)"
          },
          {
            "code" : "129620000",
            "display" : "Scapuloperoneal muscular dystrophy (disorder)"
          },
          {
            "code" : "129621001",
            "display" : "Nemaline myopathy, early onset type (disorder)"
          },
          {
            "code" : "129622008",
            "display" : "Nemaline myopathy, late onset type (disorder)"
          },
          {
            "code" : "17940001",
            "display" : "Toxic neuromuscular junction disorder (disorder)"
          },
          {
            "code" : "193209005",
            "display" : "Myasthenic syndrome due to another disorder (disorder)"
          },
          {
            "code" : "193212008",
            "display" : "Myasthenic syndrome due to hypothyroidism (disorder)"
          },
          {
            "code" : "193213003",
            "display" : "Myasthenic syndrome due to pernicious anemia (disorder)"
          },
          {
            "code" : "193214009",
            "display" : "Myasthenic syndrome due to thyrotoxicosis (disorder)"
          },
          {
            "code" : "193225000",
            "display" : "Hereditary progressive muscular dystrophy (disorder)"
          },
          {
            "code" : "193230001",
            "display" : "Distal muscular dystrophy with juvenile onset (disorder)"
          },
          {
            "code" : "193237003",
            "display" : "Myotonic disorder (disorder)"
          },
          {
            "code" : "193246009",
            "display" : "Symptomatic inflammatory myopathy associated with another disorder (disorder)"
          },
          {
            "code" : "193248005",
            "display" : "Myopathy due to disseminated lupus erythematosus (disorder)"
          },
          {
            "code" : "193249002",
            "display" : "Myopathy due to polyarteritis nodosa (disorder)"
          },
          {
            "code" : "193250002",
            "display" : "Myopathy due to rheumatoid arthritis (disorder)"
          },
          {
            "code" : "193251003",
            "display" : "Sarcoid myopathy (disorder)"
          },
          {
            "code" : "193252005",
            "display" : "Myopathy due to scleroderma (disorder)"
          },
          {
            "code" : "193253000",
            "display" : "Myopathy due to Sjögren's disease (disorder)"
          },
          {
            "code" : "196136009",
            "display" : "Lung disease co-occurrent with polymyositis (disorder)"
          },
          {
            "code" : "20305008",
            "display" : "Congenital myotonia, autosomal recessive form (disorder)"
          },
          {
            "code" : "203662005",
            "display" : "Neuromuscular scoliosis (disorder)"
          },
          {
            "code" : "22881000119100",
            "display" : "Quadriplegia with quadriparesis (disorder)"
          },
          {
            "code" : "229221000119103",
            "display" : "Myopathy due to Cushing's syndrome (disorder)"
          },
          {
            "code" : "230246005",
            "display" : "Progressive bulbar palsy of childhood (disorder)"
          },
          {
            "code" : "230247001",
            "display" : "Distal spinal muscular atrophy (disorder)"
          },
          {
            "code" : "230248006",
            "display" : "Scapuloperoneal spinal muscular atrophy (disorder)"
          },
          {
            "code" : "230249003",
            "display" : "Facioscapulohumeral spinal muscular atrophy (disorder)"
          },
          {
            "code" : "230250003",
            "display" : "Facioscapulohumeral spinal muscular atrophy with sensory loss (disorder)"
          },
          {
            "code" : "230251004",
            "display" : "Scapulohumeral spinal muscular atrophy (disorder)"
          },
          {
            "code" : "230252006",
            "display" : "Oculopharyngeal spinal muscular atrophy (disorder)"
          },
          {
            "code" : "230254007",
            "display" : "Western Pacific motor neurone disease (disorder)"
          },
          {
            "code" : "230255008",
            "display" : "Madras-type motor neurone disease (disorder)"
          },
          {
            "code" : "230257000",
            "display" : "Paraneoplastic motor neurone disease (disorder)"
          },
          {
            "code" : "230258005",
            "display" : "Amyotrophic lateral sclerosis with dementia (disorder)"
          },
          {
            "code" : "230274000",
            "display" : "Frontal lobe degeneration with motor neurone disease (disorder)"
          },
          {
            "code" : "230672006",
            "display" : "Congenital myasthenic syndrome (disorder)"
          },
          {
            "code" : "230685009",
            "display" : "Myasthenia gravis associated with thymoma (disorder)"
          },
          {
            "code" : "230687001",
            "display" : "Myopathy in myasthenia gravis (disorder)"
          },
          {
            "code" : "240046001",
            "display" : "Muscular dystrophy with predominantly proximal limb girdle distribution (disorder)"
          },
          {
            "code" : "240047005",
            "display" : "X-linked muscular dystrophy with limb girdle distribution (disorder)"
          },
          {
            "code" : "240048000",
            "display" : "X-linked muscular dystrophy with abnormal dystrophin (disorder)"
          },
          {
            "code" : "240049008",
            "display" : "Intermediate X-linked muscular dystrophy (disorder)"
          },
          {
            "code" : "240051007",
            "display" : "X-linked limb girdle muscular dystrophy with normal dystrophin (disorder)"
          },
          {
            "code" : "240054004",
            "display" : "Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)"
          },
          {
            "code" : "240055003",
            "display" : "Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein (disorder)"
          },
          {
            "code" : "240058001",
            "display" : "Reunion-Indiana Amish type muscular dystrophy (disorder)"
          },
          {
            "code" : "240060004",
            "display" : "Western type of congenital muscular dystrophy (disorder)"
          },
          {
            "code" : "240061000",
            "display" : "Congenital muscular dystrophy with arthrogryposis multiplex congenita (disorder)"
          },
          {
            "code" : "240062007",
            "display" : "Ullrich congenital muscular dystrophy (disorder)"
          },
          {
            "code" : "240063002",
            "display" : "Eichsfeld type congenital muscular dystrophy (disorder)"
          },
          {
            "code" : "240064008",
            "display" : "Hutterite type of muscular dystrophy (disorder)"
          },
          {
            "code" : "240065009",
            "display" : "Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder)"
          },
          {
            "code" : "240067001",
            "display" : "Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)"
          },
          {
            "code" : "240068006",
            "display" : "Autosomal dominant muscular dystrophy with gene located at 5q31 (disorder)"
          },
          {
            "code" : "240069003",
            "display" : "Late onset proximal muscular dystrophy with dysarthria (disorder)"
          },
          {
            "code" : "240070002",
            "display" : "Muscular dystrophy not predominantly limb girdle in distribution (disorder)"
          },
          {
            "code" : "240071003",
            "display" : "X-linked muscular dystrophy not predominantly limb girdle (disorder)"
          },
          {
            "code" : "240073000",
            "display" : "Autosomal recessive muscular dystrophy not predominantly limb girdle (disorder)"
          },
          {
            "code" : "240074006",
            "display" : "Scapulohumeral muscular dystrophy (disorder)"
          },
          {
            "code" : "240075007",
            "display" : "Autosomal dominant muscular dystrophy not predominantly limb girdle (disorder)"
          },
          {
            "code" : "240076008",
            "display" : "Benign scapuloperoneal muscular dystrophy (disorder)"
          },
          {
            "code" : "240077004",
            "display" : "Severe scapuloperoneal muscular dystrophy with cardiomyopathy (disorder)"
          },
          {
            "code" : "240078009",
            "display" : "Benign congenital muscular dystrophy with finger flexion contractures (disorder)"
          },
          {
            "code" : "240081004",
            "display" : "Autosomal recessive centronuclear myopathy (disorder)"
          },
          {
            "code" : "240100004",
            "display" : "Myopathy caused by snake bite (disorder)"
          },
          {
            "code" : "240104008",
            "display" : "Congenital myotonic dystrophy (disorder)"
          },
          {
            "code" : "24800001000004103",
            "display" : "Functional quadriplegia due to multiple sclerosis (disorder)"
          },
          {
            "code" : "24861000119103",
            "display" : "Symptomatic inflammatory myopathy (disorder)"
          },
          {
            "code" : "257277002",
            "display" : "Combined disorder of muscle AND peripheral nerve (disorder)"
          },
          {
            "code" : "267604001",
            "display" : "Myasthenic syndrome due to diabetic mellitus (disorder)"
          },
          {
            "code" : "267607008",
            "display" : "Familial periodic paralysis (disorder)"
          },
          {
            "code" : "274864009",
            "display" : "Glycogen storage disease, type II (disorder)"
          },
          {
            "code" : "275468009",
            "display" : "Congenital quadriplegia (disorder)"
          },
          {
            "code" : "29145002",
            "display" : "Schwartz-Jampel syndrome (disorder)"
          },
          {
            "code" : "292991000119106",
            "display" : "Eaton Lambert syndrome without underlying malignancy (disorder)"
          },
          {
            "code" : "296241000119107",
            "display" : "Disorder of respiratory system due to dermatomyositis (disorder)"
          },
          {
            "code" : "304737009",
            "display" : "Familial hyperkalemic periodic paralysis (disorder)"
          },
          {
            "code" : "30967002",
            "display" : "Thyrotoxic periodic paralysis (disorder)"
          },
          {
            "code" : "31097004",
            "display" : "Post poliomyelitis syndrome (disorder)"
          },
          {
            "code" : "311671000119100",
            "display" : "Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder)"
          },
          {
            "code" : "314341000119101",
            "display" : "Neuromuscular scoliosis of cervical spine (disorder)"
          },
          {
            "code" : "314351000119104",
            "display" : "Neuromuscular scoliosis of cervicothoracic spine (disorder)"
          },
          {
            "code" : "314361000119102",
            "display" : "Neuromuscular scoliosis of lumbar spine (disorder)"
          },
          {
            "code" : "314371000119108",
            "display" : "Neuromuscular scoliosis of lumbosacral spine (disorder)"
          },
          {
            "code" : "314391000119109",
            "display" : "Neuromuscular scoliosis of thoracic spine (disorder)"
          },
          {
            "code" : "314401000119106",
            "display" : "Neuromuscular scoliosis of thoracolumbar spine (disorder)"
          },
          {
            "code" : "31839002",
            "display" : "Myasthenia gravis, adult form (disorder)"
          },
          {
            "code" : "329741000119109",
            "display" : "Neuromuscular scoliosis of lumbar spine co-occurrent and due to cerebral palsy (disorder)"
          },
          {
            "code" : "329841000119103",
            "display" : "Neuromuscular scoliosis due to poliomyelitis (disorder)"
          },
          {
            "code" : "330471000119101",
            "display" : "Neuromuscular scoliosis co-occurrent and due to cerebral palsy (disorder)"
          },
          {
            "code" : "330521000119103",
            "display" : "Neuromuscular scoliosis of thoracolumbar spine co-occurrent and due to cerebral palsy (disorder)"
          },
          {
            "code" : "3434004",
            "display" : "Myotonia (finding)"
          },
          {
            "code" : "37340000",
            "display" : "Motor neuron disease (disorder)"
          },
          {
            "code" : "387732009",
            "display" : "Becker muscular dystrophy (disorder)"
          },
          {
            "code" : "3971006",
            "display" : "Duchenne muscular dystrophy carrier detection (procedure)"
          },
          {
            "code" : "398102009",
            "display" : "Acute poliomyelitis (disorder)"
          },
          {
            "code" : "399091004",
            "display" : "Facioscapulohumeral muscular dystrophy (disorder)"
          },
          {
            "code" : "40381009",
            "display" : "Familial normokalemic periodic paralysis (disorder)"
          },
          {
            "code" : "40956001",
            "display" : "Guillain-Barré syndrome (disorder)"
          },
          {
            "code" : "422348008",
            "display" : "Andersen Tawil syndrome (disorder)"
          },
          {
            "code" : "441705005",
            "display" : "Complete quadriplegia due to spinal cord lesion between first and fourth cervical vertebra (disorder)"
          },
          {
            "code" : "441980007",
            "display" : "Complete quadriplegia due to spinal cord lesion between fifth and seventh cervical vertebra (disorder)"
          },
          {
            "code" : "443819006",
            "display" : "Critical illness myopathy (disorder)"
          },
          {
            "code" : "46804001",
            "display" : "Severe X-linked myotubular myopathy (disorder)"
          },
          {
            "code" : "48721008",
            "display" : "Quadriplegic cerebral palsy (disorder)"
          },
          {
            "code" : "49793008",
            "display" : "Hereditary motor neuron disease (disorder)"
          },
          {
            "code" : "5262007",
            "display" : "Spinal muscular atrophy (disorder)"
          },
          {
            "code" : "54280009",
            "display" : "Kugelberg-Welander disease (disorder)"
          },
          {
            "code" : "54304004",
            "display" : "Progressive bulbar palsy (disorder)"
          },
          {
            "code" : "56989000",
            "display" : "Eaton-Lambert syndrome (disorder)"
          },
          {
            "code" : "57938005",
            "display" : "Congenital myotonia, autosomal dominant form (disorder)"
          },
          {
            "code" : "58795000",
            "display" : "Distal muscular dystrophy (disorder)"
          },
          {
            "code" : "608874000",
            "display" : "Eaton Lambert syndrome with underlying malignancy (disorder)"
          },
          {
            "code" : "64383006",
            "display" : "Werdnig-Hoffmann disease (disorder)"
          },
          {
            "code" : "68437005",
            "display" : "Thyrotoxic myopathy (disorder)"
          },
          {
            "code" : "698741009",
            "display" : "Acute complete quadriplegia due to spinal cord lesion between first and fourth cervical vertebra (disorder)"
          },
          {
            "code" : "698743007",
            "display" : "Acute complete quadriplegia due to spinal cord lesion between fifth and seventh cervical vertebra (disorder)"
          },
          {
            "code" : "698846009",
            "display" : "Tibial muscular dystrophy (disorder)"
          },
          {
            "code" : "699866005",
            "display" : "Progressive bulbar palsy with sensorineural deafness (disorder)"
          },
          {
            "code" : "702343002",
            "display" : "Early onset myopathy with fatal cardiomyopathy (disorder)"
          },
          {
            "code" : "702349003",
            "display" : "Actin accumulation myopathy (disorder)"
          },
          {
            "code" : "702380008",
            "display" : "Idiopathic inflammatory myopathy (disorder)"
          },
          {
            "code" : "702424003",
            "display" : "Dilated cardiomyopathy 3B (disorder)"
          },
          {
            "code" : "703524005",
            "display" : "Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)"
          },
          {
            "code" : "703544004",
            "display" : "Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)"
          },
          {
            "code" : "711406009",
            "display" : "Autosomal recessive axonal neuropathy with neuromyotonia (disorder)"
          },
          {
            "code" : "711483003",
            "display" : "Spinal muscular atrophy with respiratory distress type 1 (disorder)"
          },
          {
            "code" : "715317001",
            "display" : "Proximal myotonic myopathy (disorder)"
          },
          {
            "code" : "715340002",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2D (disorder)"
          },
          {
            "code" : "715341003",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2A (disorder)"
          },
          {
            "code" : "715429006",
            "display" : "Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)"
          },
          {
            "code" : "715788001",
            "display" : "Myotonia fluctuans (disorder)"
          },
          {
            "code" : "715789009",
            "display" : "Myotonia permanens (disorder)"
          },
          {
            "code" : "715793003",
            "display" : "Acetazolamide responsive myotonia (disorder)"
          },
          {
            "code" : "715863001",
            "display" : "Autoimmune necrotizing myopathy (disorder)"
          },
          {
            "code" : "716696006",
            "display" : "Autosomal dominant centronuclear myopathy (disorder)"
          },
          {
            "code" : "716722005",
            "display" : "Acute motor sensory axonal Guillain-Barré syndrome (disorder)"
          },
          {
            "code" : "716723000",
            "display" : "Guillain-Barré syndrome acute inflammatory demyelinating polyradiculoneuropathic form (disorder)"
          },
          {
            "code" : "718176005",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2C (disorder)"
          },
          {
            "code" : "718177001",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2F (disorder)"
          },
          {
            "code" : "718179003",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2B (disorder)"
          },
          {
            "code" : "718180000",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2I (disorder)"
          },
          {
            "code" : "718555006",
            "display" : "Juvenile amyotrophic lateral sclerosis (disorder)"
          },
          {
            "code" : "718850008",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)"
          },
          {
            "code" : "719836007",
            "display" : "X-linked distal arthrogryposis multiplex congenita (disorder)"
          },
          {
            "code" : "719985001",
            "display" : "Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)"
          },
          {
            "code" : "719987009",
            "display" : "Autosomal dominant limb girdle muscular dystrophy type 1D (disorder)"
          },
          {
            "code" : "719988004",
            "display" : "Autosomal dominant limb girdle muscular dystrophy type 1E (disorder)"
          },
          {
            "code" : "719989007",
            "display" : "Autosomal dominant limb girdle muscular dystrophy type 1F (disorder)"
          },
          {
            "code" : "719990003",
            "display" : "Autosomal dominant limb girdle muscular dystrophy type 1G (disorder)"
          },
          {
            "code" : "720522001",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2G (disorder)"
          },
          {
            "code" : "720523006",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2K (disorder)"
          },
          {
            "code" : "721190004",
            "display" : "Myopathy due to magnesium deficiency (disorder)"
          },
          {
            "code" : "722060007",
            "display" : "Oculogastrointestinal muscular dystrophy (disorder)"
          },
          {
            "code" : "722302009",
            "display" : "Glycogen storage disease type II infantile onset (disorder)"
          },
          {
            "code" : "722343009",
            "display" : "Glycogen storage disease type II late onset (disorder)"
          },
          {
            "code" : "722987009",
            "display" : "Amyotrophic lateral sclerosis plus syndrome (disorder)"
          },
          {
            "code" : "72315009",
            "display" : "Inclusion body myositis (disorder)"
          },
          {
            "code" : "723308003",
            "display" : "Epidermolysis bullosa simplex with muscular dystrophy (disorder)"
          },
          {
            "code" : "723407009",
            "display" : "Muscular dystrophy Selcen type (disorder)"
          },
          {
            "code" : "723612001",
            "display" : "Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)"
          },
          {
            "code" : "724095006",
            "display" : "Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)"
          },
          {
            "code" : "724559006",
            "display" : "Myopathy co-occurrent and due to hypercalcemia (disorder)"
          },
          {
            "code" : "725042001",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2J (disorder)"
          },
          {
            "code" : "725043006",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2O (disorder)"
          },
          {
            "code" : "725420009",
            "display" : "Congenital muscular dystrophy Paradas type (disorder)"
          },
          {
            "code" : "725907002",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)"
          },
          {
            "code" : "726051002",
            "display" : "Myotonia congenita (disorder)"
          },
          {
            "code" : "726614009",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2P (disorder)"
          },
          {
            "code" : "726615005",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder)"
          },
          {
            "code" : "726616006",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2L (disorder)"
          },
          {
            "code" : "726617002",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2N (disorder)"
          },
          {
            "code" : "726618007",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2M (disorder)"
          },
          {
            "code" : "732929002",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2S (disorder)"
          },
          {
            "code" : "732930007",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2T (disorder)"
          },
          {
            "code" : "73297009",
            "display" : "Muscular dystrophy (disorder)"
          },
          {
            "code" : "7409003",
            "display" : "Secondary periodic paralysis (disorder)"
          },
          {
            "code" : "74116004",
            "display" : "Nutritional muscular degeneration (disorder)"
          },
          {
            "code" : "75072002",
            "display" : "Nemaline myopathy (disorder)"
          },
          {
            "code" : "763067000",
            "display" : "Autosomal dominant congenital benign spinal muscular atrophy (disorder)"
          },
          {
            "code" : "763314009",
            "display" : "Congenital muscular dystrophy with hyperlaxity (disorder)"
          },
          {
            "code" : "763315005",
            "display" : "Congenital myopathy with myasthenic-like onset (disorder)"
          },
          {
            "code" : "763533003",
            "display" : "Distal hereditary motor neuropathy Jerash type (disorder)"
          },
          {
            "code" : "764944006",
            "display" : "Congenital muscular dystrophy type 1B (disorder)"
          },
          {
            "code" : "764945007",
            "display" : "Congenital myopathy with internal nuclei and atypical cores (disorder)"
          },
          {
            "code" : "76670001",
            "display" : "Duchenne muscular dystrophy (disorder)"
          },
          {
            "code" : "766706007",
            "display" : "Inflammatory myopathy with abundant macrophages (disorder)"
          },
          {
            "code" : "766715000",
            "display" : "Metabolic myopathy due to lactate transporter defect (disorder)"
          },
          {
            "code" : "766722008",
            "display" : "Paraparetic variant of Guillain-Barré syndrome (disorder)"
          },
          {
            "code" : "766764008",
            "display" : "X-linked distal spinal muscular atrophy type 3 (disorder)"
          },
          {
            "code" : "770430000",
            "display" : "Autosomal recessive distal spinal muscular atrophy type 3 (disorder)"
          },
          {
            "code" : "770630005",
            "display" : "Distal hereditary motor neuropathy type 1 (disorder)"
          },
          {
            "code" : "770727008",
            "display" : "Spinal muscular atrophy with respiratory distress type 2 (disorder)"
          },
          {
            "code" : "770792007",
            "display" : "Adult-onset distal myopathy due to valosin containing protein mutation (disorder)"
          },
          {
            "code" : "77097004",
            "display" : "Oculopharyngeal muscular dystrophy (disorder)"
          },
          {
            "code" : "771081007",
            "display" : "Distal hereditary motor neuropathy type 7 (disorder)"
          },
          {
            "code" : "771267003",
            "display" : "Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder)"
          },
          {
            "code" : "771272007",
            "display" : "Congenital muscular dystrophy due to lamin A/C mutation (disorder)"
          },
          {
            "code" : "771302009",
            "display" : "Autosomal recessive lower motor neuron disease with childhood onset (disorder)"
          },
          {
            "code" : "771334000",
            "display" : "Autosomal dominant limb-girdle muscular dystrophy type 1H (disorder)"
          },
          {
            "code" : "771475006",
            "display" : "Young adult-onset distal hereditary motor neuropathy (disorder)"
          },
          {
            "code" : "772129007",
            "display" : "Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)"
          },
          {
            "code" : "774153002",
            "display" : "Periodic paralysis with transient compartment-like syndrome (disorder)"
          },
          {
            "code" : "774154008",
            "display" : "Periodic paralysis with later-onset distal motor neuropathy (disorder)"
          },
          {
            "code" : "77461000119109",
            "display" : "Myasthenia gravis with exacerbation (disorder)"
          },
          {
            "code" : "77471000119103",
            "display" : "Myasthenia gravis without exacerbation (disorder)"
          },
          {
            "code" : "77956009",
            "display" : "Steinert myotonic dystrophy syndrome (disorder)"
          },
          {
            "code" : "782772000",
            "display" : "Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder)"
          },
          {
            "code" : "782941005",
            "display" : "Richieri Costa-da Silva syndrome (disorder)"
          },
          {
            "code" : "783010003",
            "display" : "Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome (disorder)"
          },
          {
            "code" : "783166000",
            "display" : "Distal anoctaminopathy (disorder)"
          },
          {
            "code" : "783174004",
            "display" : "Congenital muscular dystrophy with intellectual disability (disorder)"
          },
          {
            "code" : "783175003",
            "display" : "Congenital muscular dystrophy without intellectual disability (disorder)"
          },
          {
            "code" : "783176002",
            "display" : "Congenital muscular dystrophy with cerebellar involvement (disorder)"
          },
          {
            "code" : "783554002",
            "display" : "Autosomal recessive limb girdle muscular dystrophy type 2U (disorder)"
          },
          {
            "code" : "784341001",
            "display" : "Amyotrophic lateral sclerosis type 4 (disorder)"
          },
          {
            "code" : "784352007",
            "display" : "X-linked scapuloperoneal muscular dystrophy (disorder)"
          },
          {
            "code" : "784391002",
            "display" : "Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)"
          },
          {
            "code" : "787037000",
            "display" : "Congenital muscular dystrophy type 1A (disorder)"
          },
          {
            "code" : "80976008",
            "display" : "Myasthenic crisis (disorder)"
          },
          {
            "code" : "81211007",
            "display" : "Primary lateral sclerosis (disorder)"
          },
          {
            "code" : "82077006",
            "display" : "Myotubular myopathy (disorder)"
          },
          {
            "code" : "82732003",
            "display" : "Familial hypokalemic periodic paralysis (disorder)"
          },
          {
            "code" : "838276009",
            "display" : "Amyotrophic lateral sclerosis, parkinsonism, dementia complex (disorder)"
          },
          {
            "code" : "84590007",
            "display" : "Lower motor neuron disease (disorder)"
          },
          {
            "code" : "85034001",
            "display" : "Myotonia acquisita (disorder)"
          },
          {
            "code" : "85505000",
            "display" : "Adult spinal muscular atrophy (disorder)"
          },
          {
            "code" : "86044005",
            "display" : "Amyotrophic lateral sclerosis (disorder)"
          },
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