| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0005129 |
BXGD000304 |
Bernard-Soulier Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0010520 |
BXGD000675 |
Cyanosis |
Pathological Conditions, Signs and Symptoms |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0012569 |
BXGD000777 |
Diplopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0013144 |
BXGD000800 |
Drowsiness |
Mental Disorders |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019569 |
BXGD001337 |
Hirschsprung Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0024636 |
BXGD001793 |
Malocclusion |
Stomatognathic Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0026896 |
BXGD001946 |
Myasthenia Gravis |
Neoplasms; Immune System Diseases; Nervous System Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0032181 |
BXGD002332 |
Platelet Count measurement |
|
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0040100 |
BXGD002840 |
Thymoma |
Neoplasms; Hemic and Lymphatic Diseases |
| C0040115 |
BXGD002841 |
Thymus Hyperplasia |
Hemic and Lymphatic Diseases |
| C0040420 |
BXGD002861 |
Tonometry |
|
| C0085619 |
BXGD003207 |
Orthopnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0162429 |
BXGD003942 |
Malnutrition |
Nutritional and Metabolic Diseases |
| C0200665 |
BXGD004045 |
Platelet mean volume determination (procedure) |
|
| C0231807 |
BXGD004524 |
Dyspnea on exertion |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0234182 |
BXGD004631 |
Gowers sign |
|
| C0234860 |
BXGD004698 |
Weak cry |
|
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0240479 |
BXGD005039 |
Neck muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0393934 |
BXGD008158 |
Slow channel syndrome |
Nervous System Diseases |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0427063 |
BXGD008602 |
Shoulder girdle weakness |
|
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0476408 |
BXGD008994 |
Reduced vital capacity |
|
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0587246 |
BXGD009616 |
Muscle weakness of limb |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0596887 |
BXGD009648 |
mathematical ability |
|
| C0751401 |
BXGD010427 |
Ophthalmoparesis |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0751882 |
BXGD010626 |
Myasthenic Syndromes, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0947912 |
BXGD011497 |
Myasthenias |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1280798 |
BXGD012129 |
Von Willebrand disease, platelet type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1834536 |
BXGD013977 |
Weakness of the intrinsic hand muscles |
|
| C1836047 |
BXGD014074 |
Long face |
|
| C1837091 |
BXGD014196 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837098 |
BXGD014198 |
Easy fatigability |
|
| C1837108 |
BXGD014199 |
Decreased muscle mass |
|
| C1837122 |
BXGD014200 |
Myasthenic Syndrome, Congenital, Fast-Channel |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837142 |
BXGD014201 |
Poor suck |
|
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1843637 |
BXGD014597 |
Neck flexor weakness |
|
| C1853949 |
BXGD015369 |
MYASTHENIA, FAMILIAL INFANTILE, 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1853950 |
BXGD015370 |
Generalized hypotonia due to defect at the neuromuscular junction |
|
| C1853952 |
BXGD015371 |
Decreased miniature endplate potentials |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854387 |
BXGD015396 |
Type 1 muscle fiber predominance |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1864580 |
BXGD016235 |
Type 2 muscle fiber atrophy |
|
| C1866934 |
BXGD016427 |
Reduced tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2228039 |
BXGD016957 |
Ankle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C2230441 |
BXGD016958 |
Triceps weakness |
|
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2751260 |
BXGD017694 |
Macrothrombocytopenia |
Hemic and Lymphatic Diseases |
| C2830004 |
BXGD017804 |
Somnolence |
Pathological Conditions, Signs and Symptoms |
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3277076 |
BXGD018700 |
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT |
|
| C3277226 |
BXGD018711 |
Restrictive ventilatory defect |
|
| C3278148 |
BXGD018728 |
BERNARD-SOULIER SYNDROME, TYPE A1 |
|
| C3279725 |
BXGD018774 |
Hip flexor weakness |
|
| C3806462 |
BXGD019512 |
Apneic episodes precipitated by illness, fatigue, stress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C3806467 |
BXGD019513 |
Respiratory insufficiency due to muscle weakness |
Respiratory Tract Diseases |
| C3828530 |
BXGD019744 |
Platelet Component Distribution Width Measurement |
|
| C3839460 |
BXGD019773 |
Nonprogressive |
|
| C4015465 |
BXGD020208 |
Thoracic kyphoscoliosis |
|
| C4021726 |
BXGD020735 |
EMG: myopathic abnormalities |
Musculoskeletal Diseases; Nervous System Diseases |
| C4021728 |
BXGD020737 |
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
|
| C4021753 |
BXGD020758 |
Abnormality of the immune system |
|
| C4022584 |
BXGD020925 |
Fatigable weakness of neck muscles |
|
| C4022587 |
BXGD020928 |
Fatigable weakness of respiratory muscles |
|
| C4023154 |
BXGD021126 |
Impaired ristocetin-induced platelet aggregation |
|
| C4024601 |
BXGD021334 |
Weakness of long finger extensor muscles |
|
| C4025615 |
BXGD021696 |
Decreased size of nerve terminals |
|
| C4025671 |
BXGD021722 |
Sudden episodic apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C4073190 |
BXGD022064 |
Abnormality of masticatory muscle |
|
| C4082299 |
BXGD022088 |
Bulbar palsy |
Nervous System Diseases |
| C4084823 |
BXGD022108 |
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
|
| C4225369 |
BXGD022245 |
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL |
|
| C4225405 |
BXGD022266 |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL |
|
| C4225413 |
BXGD022269 |
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL |
|