FHIR IG analytics
| Package | us.nlm.vsac |
| Resource Type | ValueSet |
| Id | ValueSet-2.16.840.1.113762.1.4.1248.238.json |
| FHIR Version | R4 |
| Source | 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 |
| 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
Resources that this resource uses
| CodeSystem |
| sct | SNOMED codes used in this IG |
Narrative
No narrative content found in resource
Source1
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"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)",
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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": {
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{
"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",
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"code": "715341003",
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"code": "715429006",
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"code": "715788001",
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"code": "715789009",
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{
"code": "715793003",
"display": "Acetazolamide responsive myotonia (disorder)"
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"code": "715863001",
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"code": "716696006",
"display": "Autosomal dominant centronuclear myopathy (disorder)"
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"code": "716722005",
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{
"code": "718179003",
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{
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{
"code": "718555006",
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"code": "718850008",
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"code": "719836007",
"display": "X-linked distal arthrogryposis multiplex congenita (disorder)"
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"code": "719985001",
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"code": "719988004",
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{
"code": "719989007",
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"code": "719990003",
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"code": "720522001",
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"code": "720523006",
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"code": "721190004",
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"code": "722060007",
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"code": "722302009",
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"code": "722987009",
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"code": "723308003",
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"code": "723407009",
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"code": "723612001",
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"code": "724095006",
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"code": "725043006",
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"code": "725420009",
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"code": "726051002",
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"code": "726614009",
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"code": "726615005",
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"code": "726616006",
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"code": "726617002",
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"code": "726618007",
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{
"code": "732929002",
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{
"code": "732930007",
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"code": "73297009",
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"code": "7409003",
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"code": "74116004",
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"code": "75072002",
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"code": "763067000",
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"code": "763533003",
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{
"code": "764944006",
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"code": "764945007",
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"code": "76670001",
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"code": "766706007",
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"code": "766715000",
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"code": "766722008",
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"code": "766764008",
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"code": "770430000",
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"code": "770630005",
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"code": "770727008",
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"code": "770792007",
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"code": "77097004",
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"code": "771272007",
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"code": "774154008",
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{
"code": "77956009",
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"code": "782772000",
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"code": "782941005",
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"code": "783010003",
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"code": "783175003",
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"code": "783176002",
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"code": "783554002",
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}
FHIR
FHIRsmith