| C0002986 |
BXGD000165 |
Fabry Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007682 |
BXGD000471 |
CNS disorder |
Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009918 |
BXGD000636 |
Contracture of joint |
Musculoskeletal Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017921 |
BXGD001152 |
Glycogen storage disease type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0019572 |
BXGD001338 |
Hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0023522 |
BXGD001680 |
Leukodystrophy, Metachromatic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023786 |
BXGD001697 |
Mucopolysaccharidosis I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024408 |
BXGD001768 |
Machado-Joseph Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0026703 |
BXGD001919 |
Mucopolysaccharidoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0026706 |
BXGD001921 |
Mucopolysaccharidosis III |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0026707 |
BXGD001922 |
Mucopolysaccharidosis IV |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0026709 |
BXGD001924 |
Mucopolysaccharidosis VI |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0027059 |
BXGD001965 |
Myocarditis |
Cardiovascular Diseases |
| C0027543 |
BXGD001997 |
Avascular necrosis of bone |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0033975 |
BXGD002447 |
Psychotic Disorders |
Mental Disorders |
| C0037926 |
BXGD002712 |
Compression of spinal cord |
Nervous System Diseases; Wounds and Injuries |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0085660 |
BXGD003228 |
Aseptic necrosis |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0086647 |
BXGD003298 |
Mucopolysaccharidosis Type IIIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0086651 |
BXGD003302 |
Mucopolysaccharidosis, MPS-IV-A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0086795 |
BXGD003311 |
Pfaundler-Hurler Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0149645 |
BXGD003339 |
Cervical myelopathy |
Nervous System Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0201896 |
BXGD004055 |
Arylsulfatase B measurement |
|
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0221373 |
BXGD004454 |
Claw hand |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0238669 |
BXGD004952 |
Aortic root dilatation |
Cardiovascular Diseases |
| C0241654 |
BXGD005104 |
Abnormal heart valve morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0262380 |
BXGD005232 |
Asymptomatic bacteriuria |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0266798 |
BXGD005715 |
Compression of umbilical cord |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0268218 |
BXGD005854 |
Maroteaux-Lamy syndrome, mild form |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0342751 |
BXGD007542 |
Generalized glycogen storage disease of infants |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0343386 |
BXGD007620 |
Clostridium difficile infection |
Infections |
| C0349204 |
BXGD007892 |
Nonorganic psychosis |
Mental Disorders |
| C0373721 |
BXGD007965 |
Selenium measurement |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0392476 |
BXGD008046 |
Epiphyseal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0403397 |
BXGD008277 |
Steroid-resistant nephrotic syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0577631 |
BXGD009535 |
Carotid Atherosclerosis |
Nervous System Diseases; Cardiovascular Diseases |
| C0581381 |
BXGD009567 |
Recurrent upper respiratory tract infection |
Infections; Respiratory Tract Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C1184923 |
BXGD011800 |
Lumbar hyperlordosis |
Musculoskeletal Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1328407 |
BXGD012465 |
Hip Dysplasia |
Musculoskeletal Diseases; Wounds and Injuries |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1838662 |
BXGD014334 |
Metaphyseal irregularity |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1846433 |
BXGD014813 |
Prominent sternum |
|
| C1846435 |
BXGD014815 |
Disproportionate short-trunk short stature |
|
| C1846439 |
BXGD014817 |
Hypoplasia of the odontoid process |
Musculoskeletal Diseases |
| C1846442 |
BXGD014818 |
Hypoplastic acetabulae |
|
| C1848654 |
BXGD014958 |
Broad ribs |
|
| C1849039 |
BXGD014999 |
Metaphyseal widening |
|
| C1854774 |
BXGD015429 |
Dermatan sulfate excretion in urine |
|
| C1855665 |
BXGD015524 |
Ovoid vertebral bodies |
|
| C1858556 |
BXGD015805 |
OVERLAP CONNECTIVE TISSUE DISEASE |
Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases |
| C1865027 |
BXGD016287 |
Hypoplastic iliac wing |
|
| C1865841 |
BXGD016343 |
Flared iliac wings |
|
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3266102 |
BXGD018597 |
Steroid resistant nephrotic syndrome of childhood |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3887513 |
BXGD019887 |
Avascular necrosis |
Pathological Conditions, Signs and Symptoms |
| C4017253 |
BXGD020426 |
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE |
|
| C4023009 |
BXGD021062 |
Constrictive median neuropathy |
Nervous System Diseases |
| C4023114 |
BXGD021112 |
Anterior wedging of L2 |
|
| C4024677 |
BXGD021365 |
Anterior wedging of L1 |
|
| C4553018 |
BXGD023532 |
Avascular Necrosis, CTCAE |
|
| C4732730 |
BXGD023895 |
Blood spots |
|