| Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
| resourceType | ValueSet |
| id | 2.16.840.1.113762.1.4.1196.1293 |
| canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1196.1293 |
| version | 20220826 |
| status | active |
| publisher | Elimu Informatics Steward |
| name | S4GPompeDisease |
| title | S4G Pompe disease |
| 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 148 concepts
| Code | System | Display |
| 101301000119106 | http://snomed.info/sct | Acute hypercapnic respiratory failure due to obstructive sleep apnea (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) |
| 10672271000119100 | http://snomed.info/sct | Acute-on-chronic hypoxemic respiratory failure (disorder) |
| 10676831000119101 | http://snomed.info/sct | Hypoxemic respiratory failure (disorder) |
| 10762071000119109 | http://snomed.info/sct | Acute-on-chronic respiratory failure following trauma (disorder) |
| 1179626002 | http://snomed.info/sct | Respiratory failure in early neonatal period (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) |
| 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) |
| 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) |
| 129588001 | http://snomed.info/sct | Adult failure to thrive syndrome (disorder) |
| 129621001 | http://snomed.info/sct | Nemaline myopathy, early onset type (disorder) |
| 129622008 | http://snomed.info/sct | Nemaline myopathy, late onset type (disorder) |
| 134251000119105 | http://snomed.info/sct | Failure to thrive in neonate (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) |
| 16055271000119107 | http://snomed.info/sct | Respiratory failure following trauma (disorder) |
| 162236007 | http://snomed.info/sct | Weakness present (finding) |
| 162239000 | http://snomed.info/sct | Abdominal weakness (finding) |
| 181869007 | http://snomed.info/sct | Neonatal cardiorespiratory arrest (disorder) |
| 195844002 | http://snomed.info/sct | Bilateral partial vocal cord paralysis (disorder) |
| 196151000 | http://snomed.info/sct | Pulmonary insufficiency following shock (disorder) |
| 196152007 | http://snomed.info/sct | Pulmonary insufficiency following surgery (disorder) |
| 196153002 | http://snomed.info/sct | Pulmonary insufficiency following trauma (disorder) |
| 20091000175107 | http://snomed.info/sct | Acute on chronic hypoxemic and hypercapnic respiratory failure (disorder) |
| 20940004 | http://snomed.info/sct | Spinal hemiparesis (finding) |
| 213215000 | http://snomed.info/sct | Cardiorespiratory failure as a complication of care (disorder) |
| 217810002 | http://snomed.info/sct | Interruption of respiration caused by foreign body in esophagus (disorder) |
| 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) |
| 230499002 | http://snomed.info/sct | Sleep-related respiratory failure (disorder) |
| 233765002 | http://snomed.info/sct | Respiratory failure without hypercapnia (disorder) |
| 24841007 | http://snomed.info/sct | Cardiorespiratory failure during AND/OR resulting from a procedure (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) |
| 275516004 | http://snomed.info/sct | Cardiomegaly due to hypertension (disorder) |
| 276259003 | http://snomed.info/sct | Respiratory arrest preceding cardiac arrest (disorder) |
| 276536005 | http://snomed.info/sct | Respiratory insufficiency syndrome of newborn (disorder) |
| 276537001 | http://snomed.info/sct | Chronic pulmonary insufficiency of prematurity (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) |
| 309775007 | http://snomed.info/sct | Postprocedural respiratory failure (disorder) |
| 312444006 | http://snomed.info/sct | Spastic paraparesis (finding) |
| 350586651000119105 | http://snomed.info/sct | Chronic respiratory failure due to neuromuscular disease (disorder) |
| 367381002 | http://snomed.info/sct | Weak mouth closure (finding) |
| 371028005 | http://snomed.info/sct | Spastic paresis (finding) |
| 397767007 | http://snomed.info/sct | Acute respiratory failure requiring reintubation (disorder) |
| 39871006 | http://snomed.info/sct | Chronic respiratory failure (disorder) |
| 40161000119102 | http://snomed.info/sct | Weakness of face muscles as sequela of stroke (disorder) |
| 409622000 | http://snomed.info/sct | Respiratory failure (disorder) |
| 409623005 | http://snomed.info/sct | Respiratory insufficiency (disorder) |
| 410430005 | http://snomed.info/sct | Cardiorespiratory arrest (disorder) |
| 410431009 | http://snomed.info/sct | Cardiorespiratory failure (disorder) |
| 41786007 | http://snomed.info/sct | Neurological muscle weakness (finding) |
| 418073009 | http://snomed.info/sct | Pseudoparalysis due to generalized arthritis (finding) |
| 421660003 | http://snomed.info/sct | Failure to thrive in infant with acquired immunodeficiency syndrome (disorder) |
| 426896000 | http://snomed.info/sct | Chronic hypercapnic respiratory failure (disorder) |
| 427896006 | http://snomed.info/sct | Chronic respiratory insufficiency (disorder) |
| 428173007 | http://snomed.info/sct | Chronic hypoxemic respiratory failure (disorder) |
| 428484005 | http://snomed.info/sct | Organic failure to thrive (disorder) |
| 432788009 | http://snomed.info/sct | Pediatric failure to thrive (disorder) |
| 433476000 | http://snomed.info/sct | Failure to thrive in infant (disorder) |
| 443414005 | http://snomed.info/sct | Cor bovinum (disorder) |
| 443762000 | http://snomed.info/sct | Hypertrophic cardiomegaly (disorder) |
| 459821000124104 | http://snomed.info/sct | McArdle sign (finding) |
| 462171004 | http://snomed.info/sct | Fetal cardiomegaly (disorder) |
| 48121000 | http://snomed.info/sct | Congenital cardiomegaly (disorder) |
| 50314001 | http://snomed.info/sct | Partial bilateral paresis (finding) |
| 54840006 | http://snomed.info/sct | Failure to thrive (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) |
| 65710008 | http://snomed.info/sct | Acute respiratory failure (disorder) |
| 674381000119108 | http://snomed.info/sct | Weakness of facial muscle due to and following ischemic cerebrovascular accident (disorder) |
| 67905004 | http://snomed.info/sct | Acute-on-chronic respiratory failure (disorder) |
| 690171000119105 | http://snomed.info/sct | Weakness of facial muscle due to and following embolic cerebrovascular accident (disorder) |
| 698504006 | http://snomed.info/sct | Postoperative cardiopulmonary failure (disorder) |
| 699748007 | http://snomed.info/sct | Cardiorespiratory arrest with successful resuscitation (disorder) |
| 702349003 | http://snomed.info/sct | Actin accumulation myopathy (disorder) |
| 702373006 | http://snomed.info/sct | Hereditary myopathy with early respiratory failure (disorder) |
| 709109004 | http://snomed.info/sct | Hypercapnic respiratory failure (disorder) |
| 709110009 | http://snomed.info/sct | Acute hypercapnic respiratory failure (disorder) |
| 709111008 | http://snomed.info/sct | Acute hypoxemic respiratory failure (disorder) |
| 713419002 | http://snomed.info/sct | Intraoperative cardiorespiratory arrest (disorder) |
| 713512009 | http://snomed.info/sct | Muscle weakness of upper limb (finding) |
| 713514005 | http://snomed.info/sct | Muscle weakness of limb (finding) |
| 715504003 | http://snomed.info/sct | Spastic paraparesis co-occurrent with deafness (disorder) |
| 718089001 | http://snomed.info/sct | Acute respiratory failure requiring reintubation following extubation (disorder) |
| 71932004 | http://snomed.info/sct | Cardiac dilatation (disorder) |
| 732246009 | http://snomed.info/sct | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (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) |
| 735386008 | http://snomed.info/sct | Acute hypoxemic respiratory failure co-occurrent with acute hypercapnic respiratory failure (disorder) |
| 7361000175106 | http://snomed.info/sct | Acute-on-chronic hypercapnic respiratory failure (disorder) |
| 75072002 | http://snomed.info/sct | Nemaline myopathy (disorder) |
| 763829004 | http://snomed.info/sct | Oculopharyngodistal myopathy (disorder) |
| 770727008 | http://snomed.info/sct | Spinal muscular atrophy with respiratory distress type 2 (disorder) |
| 78119002 | http://snomed.info/sct | Complete bilateral paresis (finding) |
| 8186001 | http://snomed.info/sct | Cardiomegaly (disorder) |
| 823018004 | http://snomed.info/sct | Muscle paresis due to and following neuromuscular blockade (disorder) |
| 865908007 | http://snomed.info/sct | Interruption of respiration due to food lodged in esophagus (disorder) |
| 870590002 | http://snomed.info/sct | Acute hypoxemic respiratory failure due to disease caused by severe acute respiratory syndrome coronavirus 2 (disorder) |
| 87317003 | http://snomed.info/sct | Respiratory arrest (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) |
| 95619009 | http://snomed.info/sct | Neonatal respiratory failure (disorder) |
| 95634003 | http://snomed.info/sct | Neonatal respiratory arrest (disorder) |
| 95666008 | http://snomed.info/sct | Weakness of face muscles (finding) |
| 971918681000119107 | http://snomed.info/sct | Chronic respiratory failure due to obstructive sleep apnea (disorder) |
Produced 08 Sep 2023