| Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
| resourceType | ValueSet |
| id | 2.16.840.1.113762.1.4.1196.1300 |
| canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1196.1300 |
| version | 20220826 |
| status | active |
| publisher | Elimu Informatics Steward |
| name | S4GMuscularDystrophyAndWeakness |
| title | S4G Muscular dystrophy and weakness |
| date | 2022-08-26T01:03:06-04:00 |
| experimental | false |
| description | (This is a sync for genes test value set. This is only a test value set.) |
| Usages | (none) |
This value set contains 204 concepts
| Code | System | Display |
| 1010712009 | http://snomed.info/sct | Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) |
| 102568007 | http://snomed.info/sct | Paresis of lower extremity (finding) |
| 1052239007 | http://snomed.info/sct | Paresis of left vocal cord (disorder) |
| 1052240009 | http://snomed.info/sct | Paresis of right vocal cord (disorder) |
| 111501005 | http://snomed.info/sct | Congenital hereditary muscular dystrophy (disorder) |
| 111502003 | http://snomed.info/sct | Fukuyama congenital muscular dystrophy (disorder) |
| 111503008 | http://snomed.info/sct | Merosin deficient congenital muscular dystrophy (disorder) |
| 111504002 | http://snomed.info/sct | Walker-Warburg congenital muscular dystrophy (disorder) |
| 111505001 | http://snomed.info/sct | Muscle-eye-brain disease, congenital muscular dystrophy (disorder) |
| 111506000 | http://snomed.info/sct | Distal muscular dystrophy, Miyoshi type (disorder) |
| 111508004 | http://snomed.info/sct | Emery-Dreifuss muscular dystrophy (disorder) |
| 1156836006 | http://snomed.info/sct | X-linked Emery-Dreifuss muscular dystrophy (disorder) |
| 1156848009 | http://snomed.info/sct | Autosomal recessive Emery-Dreifuss muscular dystrophy (disorder) |
| 1172688004 | http://snomed.info/sct | Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) |
| 1172694007 | http://snomed.info/sct | Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) |
| 1172703004 | http://snomed.info/sct | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) |
| 1177122009 | http://snomed.info/sct | Myotonic dystrophy (disorder) |
| 1179295004 | http://snomed.info/sct | Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) |
| 1179297007 | http://snomed.info/sct | LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder) |
| 1187251009 | http://snomed.info/sct | Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome (disorder) |
| 1197153000 | http://snomed.info/sct | Typical nemaline myopathy (disorder) |
| 1197154006 | http://snomed.info/sct | Childhood-onset nemaline myopathy (disorder) |
| 1197155007 | http://snomed.info/sct | Amish nemaline myopathy (disorder) |
| 1197156008 | http://snomed.info/sct | Intermediate nemaline myopathy (disorder) |
| 1197157004 | http://snomed.info/sct | Severe congenital nemaline myopathy (disorder) |
| 1208746001 | http://snomed.info/sct | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (disorder) |
| 1217226000 | http://snomed.info/sct | Progressive scapulohumeroperoneal distal myopathy (disorder) |
| 12242711000119109 | http://snomed.info/sct | Weakness of left facial muscle due to and following cerebrovascular accident (disorder) |
| 12242751000119105 | http://snomed.info/sct | Weakness of right facial muscle due to and following cerebrovascular accident (disorder) |
| 1230273004 | http://snomed.info/sct | Megaconial congenital muscular dystrophy (disorder) |
| 1234819007 | http://snomed.info/sct | Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder) |
| 1236844002 | http://snomed.info/sct | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) |
| 126013009 | http://snomed.info/sct | Subjective muscle weakness (finding) |
| 127378008 | http://snomed.info/sct | Bilateral paresis (finding) |
| 129567005 | http://snomed.info/sct | Pharyngeal paresis (finding) |
| 129568000 | http://snomed.info/sct | Laryngeal paresis (finding) |
| 129584004 | http://snomed.info/sct | Palatal paresis (finding) |
| 129620000 | http://snomed.info/sct | Scapuloperoneal muscular dystrophy (disorder) |
| 129621001 | http://snomed.info/sct | Nemaline myopathy, early onset type (disorder) |
| 129622008 | http://snomed.info/sct | Nemaline myopathy, late onset type (disorder) |
| 135834002 | http://snomed.info/sct | Pseudoparalysis (finding) |
| 138371000119104 | http://snomed.info/sct | Paresis as late effect of poliomyelitis (disorder) |
| 15749961000119105 | http://snomed.info/sct | Weakness of bilateral facial muscles (finding) |
| 15982191000119106 | http://snomed.info/sct | Weakness of right facial muscle due to and following spontaneous intracerebral hemorrhage (disorder) |
| 15982271000119104 | http://snomed.info/sct | Weakness of right facial muscle due to and following cerebrovascular disease (disorder) |
| 15982311000119104 | http://snomed.info/sct | Weakness of left facial muscle due to and following cerebrovascular disease (disorder) |
| 15982431000119103 | http://snomed.info/sct | Weakness of left facial muscle due to and following non-traumatic intracerebral hemorrhage (disorder) |
| 16018391000119104 | http://snomed.info/sct | Paresis of left lower limb (finding) |
| 16018431000119109 | http://snomed.info/sct | Paresis of right lower limb (finding) |
| 162236007 | http://snomed.info/sct | Weakness present (finding) |
| 162239000 | http://snomed.info/sct | Abdominal weakness (finding) |
| 193225000 | http://snomed.info/sct | Hereditary progressive muscular dystrophy (disorder) |
| 193230001 | http://snomed.info/sct | Distal muscular dystrophy with juvenile onset (disorder) |
| 195844002 | http://snomed.info/sct | Bilateral partial vocal cord paralysis (disorder) |
| 20940004 | http://snomed.info/sct | Spinal hemiparesis (finding) |
| 219656000 | http://snomed.info/sct | Weak teeth clenching (finding) |
| 22881000119100 | http://snomed.info/sct | Quadriplegia with quadriparesis (disorder) |
| 23042008 | http://snomed.info/sct | Spinal paraparesis (finding) |
| 240046001 | http://snomed.info/sct | Muscular dystrophy with predominantly proximal limb girdle distribution (disorder) |
| 240047005 | http://snomed.info/sct | X-linked muscular dystrophy with limb girdle distribution (disorder) |
| 240048000 | http://snomed.info/sct | X-linked muscular dystrophy with abnormal dystrophin (disorder) |
| 240049008 | http://snomed.info/sct | Intermediate X-linked muscular dystrophy (disorder) |
| 240050008 | http://snomed.info/sct | Manifesting female carrier of X-linked muscular dystrophy (disorder) |
| 240051007 | http://snomed.info/sct | X-linked limb girdle muscular dystrophy with normal dystrophin (disorder) |
| 240053005 | http://snomed.info/sct | Hereditary myopathy limited to females (disorder) |
| 240054004 | http://snomed.info/sct | Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) |
| 240055003 | http://snomed.info/sct | Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein (disorder) |
| 240058001 | http://snomed.info/sct | Reunion-Indiana Amish type muscular dystrophy (disorder) |
| 240060004 | http://snomed.info/sct | Western type of congenital muscular dystrophy (disorder) |
| 240061000 | http://snomed.info/sct | Congenital muscular dystrophy with arthrogryposis multiplex congenita (disorder) |
| 240062007 | http://snomed.info/sct | Ullrich congenital muscular dystrophy (disorder) |
| 240063002 | http://snomed.info/sct | Eichsfeld type congenital muscular dystrophy (disorder) |
| 240064008 | http://snomed.info/sct | Hutterite type of muscular dystrophy (disorder) |
| 240065009 | http://snomed.info/sct | Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) |
| 240067001 | http://snomed.info/sct | Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) |
| 240068006 | http://snomed.info/sct | Autosomal dominant muscular dystrophy with gene located at 5q31 (disorder) |
| 240069003 | http://snomed.info/sct | Late onset proximal muscular dystrophy with dysarthria (disorder) |
| 240070002 | http://snomed.info/sct | Muscular dystrophy not predominantly limb girdle in distribution (disorder) |
| 240071003 | http://snomed.info/sct | X-linked muscular dystrophy not predominantly limb girdle (disorder) |
| 240073000 | http://snomed.info/sct | Autosomal recessive muscular dystrophy not predominantly limb girdle (disorder) |
| 240074006 | http://snomed.info/sct | Scapulohumeral muscular dystrophy (disorder) |
| 240075007 | http://snomed.info/sct | Autosomal dominant muscular dystrophy not predominantly limb girdle (disorder) |
| 240076008 | http://snomed.info/sct | Benign scapuloperoneal muscular dystrophy (disorder) |
| 240077004 | http://snomed.info/sct | Severe scapuloperoneal muscular dystrophy with cardiomyopathy (disorder) |
| 240078009 | http://snomed.info/sct | Benign congenital muscular dystrophy with finger flexion contractures (disorder) |
| 240104008 | http://snomed.info/sct | Congenital myotonic dystrophy (disorder) |
| 249886001 | http://snomed.info/sct | Weakness of jaw muscles (finding) |
| 249888000 | http://snomed.info/sct | Weakness of sternomastoid (finding) |
| 249932008 | http://snomed.info/sct | Lower facial weakness (finding) |
| 249933003 | http://snomed.info/sct | Facial weakness, lower motor neurone (finding) |
| 249934009 | http://snomed.info/sct | Facial weakness, upper motor neurone (finding) |
| 249935005 | http://snomed.info/sct | Weak eye closure (finding) |
| 249937002 | http://snomed.info/sct | Truncal muscle weakness (finding) |
| 249938007 | http://snomed.info/sct | Weakness of back (finding) |
| 249939004 | http://snomed.info/sct | Proximal muscle weakness (finding) |
| 249940002 | http://snomed.info/sct | Shoulder girdle weakness (finding) |
| 249941003 | http://snomed.info/sct | Pelvic girdle weakness (finding) |
| 249942005 | http://snomed.info/sct | Distal muscle weakness (finding) |
| 249943000 | http://snomed.info/sct | Weakness of distal arms and legs (finding) |
| 249946008 | http://snomed.info/sct | Pyramidal type muscle weakness (finding) |
| 26544005 | http://snomed.info/sct | Muscle weakness (finding) |
| 277373000 | http://snomed.info/sct | Severe childhood autosomal recessive muscular dystrophy (disorder) |
| 298281008 | http://snomed.info/sct | Upper facial weakness (finding) |
| 298282001 | http://snomed.info/sct | Spastic quadriparesis (disorder) |
| 298283006 | http://snomed.info/sct | Hand muscle weakness (finding) |
| 300948004 | http://snomed.info/sct | Quadriceps weakness (finding) |
| 309249007 | http://snomed.info/sct | Calf muscle weakness (finding) |
| 312444006 | http://snomed.info/sct | Spastic paraparesis (finding) |
| 367381002 | http://snomed.info/sct | Weak mouth closure (finding) |
| 371028005 | http://snomed.info/sct | Spastic paresis (finding) |
| 387732009 | http://snomed.info/sct | Becker muscular dystrophy (disorder) |
| 399091004 | http://snomed.info/sct | Facioscapulohumeral muscular dystrophy (disorder) |
| 40161000119102 | http://snomed.info/sct | Weakness of face muscles as sequela of stroke (disorder) |
| 41786007 | http://snomed.info/sct | Neurological muscle weakness (finding) |
| 418073009 | http://snomed.info/sct | Pseudoparalysis due to generalized arthritis (finding) |
| 459821000124104 | http://snomed.info/sct | McArdle sign (finding) |
| 50314001 | http://snomed.info/sct | Partial bilateral paresis (finding) |
| 55016009 | http://snomed.info/sct | Congenital muscular hypertrophy-cerebral syndrome (disorder) |
| 570921000124107 | http://snomed.info/sct | Weakness of left upper limb (finding) |
| 570941000124100 | http://snomed.info/sct | Weakness of left lower limb (finding) |
| 570961000124101 | http://snomed.info/sct | Weakness of right upper limb (finding) |
| 570971000124108 | http://snomed.info/sct | Weakness of right lower limb (finding) |
| 58795000 | http://snomed.info/sct | Distal muscular dystrophy (disorder) |
| 674381000119108 | http://snomed.info/sct | Weakness of facial muscle due to and following ischemic cerebrovascular accident (disorder) |
| 690171000119105 | http://snomed.info/sct | Weakness of facial muscle due to and following embolic cerebrovascular accident (disorder) |
| 698846009 | http://snomed.info/sct | Tibial muscular dystrophy (disorder) |
| 702343002 | http://snomed.info/sct | Early onset myopathy with fatal cardiomyopathy (disorder) |
| 702349003 | http://snomed.info/sct | Actin accumulation myopathy (disorder) |
| 702383005 | http://snomed.info/sct | Distal myopathy 2 (disorder) |
| 713512009 | http://snomed.info/sct | Muscle weakness of upper limb (finding) |
| 713514005 | http://snomed.info/sct | Muscle weakness of limb (finding) |
| 715317001 | http://snomed.info/sct | Proximal myotonic myopathy (disorder) |
| 715340002 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2D (disorder) |
| 715341003 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) |
| 715429006 | http://snomed.info/sct | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) |
| 715504003 | http://snomed.info/sct | Spastic paraparesis co-occurrent with deafness (disorder) |
| 718176005 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) |
| 718177001 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) |
| 718179003 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) |
| 718180000 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) |
| 718572004 | http://snomed.info/sct | Bethlem myopathy (disorder) |
| 718850008 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) |
| 719985001 | http://snomed.info/sct | Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) |
| 719987009 | http://snomed.info/sct | Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) |
| 719988004 | http://snomed.info/sct | Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) |
| 719989007 | http://snomed.info/sct | Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) |
| 719990003 | http://snomed.info/sct | Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) |
| 720522001 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2G (disorder) |
| 720523006 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2K (disorder) |
| 723308003 | http://snomed.info/sct | Epidermolysis bullosa simplex with muscular dystrophy (disorder) |
| 725042001 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) |
| 725043006 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2O (disorder) |
| 725420009 | http://snomed.info/sct | Congenital muscular dystrophy Paradas type (disorder) |
| 725907002 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) |
| 726107008 | http://snomed.info/sct | Distal myopathy Welander type (disorder) |
| 726614009 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) |
| 726615005 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) |
| 726616006 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) |
| 726617002 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2N (disorder) |
| 726618007 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) |
| 732246009 | http://snomed.info/sct | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) |
| 732929002 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2S (disorder) |
| 732930007 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) |
| 73297009 | http://snomed.info/sct | Muscular dystrophy (disorder) |
| 733489002 | http://snomed.info/sct | Distal myopathy with posterior leg and anterior hand involvement (disorder) |
| 733650000 | http://snomed.info/sct | Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder) |
| 734756006 | http://snomed.info/sct | Weakness of left facial muscle (finding) |
| 734757002 | http://snomed.info/sct | Weakness of right facial muscle (finding) |
| 75072002 | http://snomed.info/sct | Nemaline myopathy (disorder) |
| 763314009 | http://snomed.info/sct | Congenital muscular dystrophy with hyperlaxity (disorder) |
| 763718009 | http://snomed.info/sct | Finnish upper limb onset distal myopathy (disorder) |
| 763776004 | http://snomed.info/sct | Kelch like family member 9 related early-onset distal myopathy (disorder) |
| 763829004 | http://snomed.info/sct | Oculopharyngodistal myopathy (disorder) |
| 764812008 | http://snomed.info/sct | Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) |
| 764859001 | http://snomed.info/sct | Laing early-onset distal myopathy (disorder) |
| 764944006 | http://snomed.info/sct | Congenital muscular dystrophy type 1B (disorder) |
| 765197008 | http://snomed.info/sct | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (disorder) |
| 76670001 | http://snomed.info/sct | Duchenne muscular dystrophy (disorder) |
| 770792007 | http://snomed.info/sct | Adult-onset distal myopathy due to valosin containing protein mutation (disorder) |
| 77097004 | http://snomed.info/sct | Oculopharyngeal muscular dystrophy (disorder) |
| 771267003 | http://snomed.info/sct | Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) |
| 771272007 | http://snomed.info/sct | Congenital muscular dystrophy due to lamin A/C mutation (disorder) |
| 771334000 | http://snomed.info/sct | Autosomal dominant limb-girdle muscular dystrophy type 1H (disorder) |
| 773729007 | http://snomed.info/sct | X-linked myopathy with postural muscle atrophy (disorder) |
| 77956009 | http://snomed.info/sct | Steinert myotonic dystrophy syndrome (disorder) |
| 78119002 | http://snomed.info/sct | Complete bilateral paresis (finding) |
| 782675008 | http://snomed.info/sct | Distal myopathy with anterior tibial onset (disorder) |
| 782772000 | http://snomed.info/sct | Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder) |
| 783148005 | http://snomed.info/sct | Distal nebulin myopathy (disorder) |
| 783166000 | http://snomed.info/sct | Distal anoctaminopathy (disorder) |
| 783174004 | http://snomed.info/sct | Congenital muscular dystrophy with intellectual disability (disorder) |
| 783175003 | http://snomed.info/sct | Congenital muscular dystrophy without intellectual disability (disorder) |
| 783176002 | http://snomed.info/sct | Congenital muscular dystrophy with cerebellar involvement (disorder) |
| 783554002 | http://snomed.info/sct | Autosomal recessive limb girdle muscular dystrophy type 2U (disorder) |
| 784352007 | http://snomed.info/sct | X-linked scapuloperoneal muscular dystrophy (disorder) |
| 785298001 | http://snomed.info/sct | Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder) |
| 787037000 | http://snomed.info/sct | Congenital muscular dystrophy type 1A (disorder) |
| 823018004 | http://snomed.info/sct | Muscle paresis due to and following neuromuscular blockade (disorder) |
| 890368007 | http://snomed.info/sct | Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) |
| 890395002 | http://snomed.info/sct | Congenital muscular dystrophy type 1D large gene mutation (disorder) |
| 91327001 | http://snomed.info/sct | Quadriparesis (disorder) |
| 92341000119107 | http://snomed.info/sct | Weakness of extremities as sequela of stroke (disorder) |
| 95438009 | http://snomed.info/sct | Diaphragmatic paresis (finding) |
| 95666008 | http://snomed.info/sct | Weakness of face muscles (finding) |
Produced 08 Sep 2023