| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0001486 |
BXGD000056 |
Adenovirus Infections |
Infections |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0002312 |
BXGD000107 |
alpha-Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0003130 |
BXGD000183 |
Anoxia |
Pathological Conditions, Signs and Symptoms |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004106 |
BXGD000254 |
Astigmatism |
Eye Diseases |
| C0004135 |
BXGD000257 |
Ataxia Telangiectasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0004623 |
BXGD000282 |
Bacterial Infections |
Infections |
| C0004681 |
BXGD000286 |
Bagassosis |
Respiratory Tract Diseases; Occupational Diseases |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0005859 |
BXGD000342 |
Bloom Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0006111 |
BXGD000369 |
Brain Diseases |
Nervous System Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006277 |
BXGD000387 |
Bronchitis |
Infections; Respiratory Tract Diseases |
| C0006625 |
BXGD000401 |
Cachexia |
Pathological Conditions, Signs and Symptoms |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007114 |
BXGD000431 |
Malignant neoplasm of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007120 |
BXGD000435 |
Bronchioloalveolar Adenocarcinoma |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007138 |
BXGD000446 |
Carcinoma, Transitional Cell |
Neoplasms |
| C0007847 |
BXGD000492 |
Malignant tumor of cervix |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008479 |
BXGD000544 |
Chondrosarcoma |
Neoplasms |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009207 |
BXGD000593 |
Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0009375 |
BXGD000602 |
Colonic Neoplasms |
Digestive System Diseases; Neoplasms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010278 |
BXGD000660 |
Craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010481 |
BXGD000673 |
Cushing Syndrome |
Endocrine System Diseases |
| C0011175 |
BXGD000701 |
Dehydration |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0011351 |
BXGD000717 |
Dental Enamel Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014772 |
BXGD000948 |
Red Blood Cell Count measurement |
|
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0015674 |
BXGD001012 |
Chronic Fatigue Syndrome |
Infections; Musculoskeletal Diseases; Nervous System Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016057 |
BXGD001042 |
Fibrosarcoma |
Neoplasms |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017205 |
BXGD001105 |
Gaucher Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0017658 |
BXGD001138 |
Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0017661 |
BXGD001139 |
IGA Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases |
| C0018790 |
BXGD001221 |
Cardiac Arrest |
Cardiovascular Diseases |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0019829 |
BXGD001350 |
Hodgkin Disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023281 |
BXGD001628 |
Leishmaniasis |
Infections; Skin and Connective Tissue Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023486 |
BXGD001668 |
Prolymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023524 |
BXGD001681 |
Leukoencephalopathy, Progressive Multifocal |
Infections; Nervous System Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024312 |
BXGD001766 |
Lymphopenia |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024530 |
BXGD001783 |
Malaria |
Infections |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0024636 |
BXGD001793 |
Malocclusion |
Stomatognathic Diseases |
| C0024793 |
BXGD001805 |
Marek Disease |
Infections; Immune System Diseases; Hemic and Lymphatic Diseases; Animal Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028326 |
BXGD002075 |
Noonan Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0029925 |
BXGD002181 |
Ovarian Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0031485 |
BXGD002303 |
Phenylketonurias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0032000 |
BXGD002318 |
Pituitary Adenoma |
Neoplasms; Nervous System Diseases; Endocrine System Diseases |
| C0032273 |
BXGD002343 |
Pneumoconiosis |
Respiratory Tract Diseases; Occupational Diseases |
| C0032897 |
BXGD002378 |
Prader-Willi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0032927 |
BXGD002381 |
Precancerous Conditions |
Neoplasms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0035204 |
BXGD002511 |
Respiration Disorders |
Respiratory Tract Diseases |
| C0035242 |
BXGD002521 |
Respiratory Tract Diseases |
Respiratory Tract Diseases |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038443 |
BXGD002757 |
Stress, Psychological |
Behavior and Behavior Mechanisms |
| C0039101 |
BXGD002790 |
synovial sarcoma |
Neoplasms |
| C0039446 |
BXGD002811 |
Telangiectasis |
Cardiovascular Diseases |
| C0040261 |
BXGD002855 |
Onychomycosis |
Infections; Skin and Connective Tissue Diseases |
| C0040433 |
BXGD002865 |
Tooth Crowding |
Stomatognathic Diseases |
| C0042076 |
BXGD002956 |
Urologic Neoplasms |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0043119 |
BXGD003029 |
Werner Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0043345 |
BXGD003042 |
Xeroderma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0043346 |
BXGD003043 |
Xeroderma Pigmentosum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079772 |
BXGD003099 |
T-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085413 |
BXGD003171 |
Polycystic Kidney, Autosomal Dominant |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0149782 |
BXGD003365 |
Squamous cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0149925 |
BXGD003387 |
Small cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0153382 |
BXGD003627 |
Malignant neoplasm of oropharynx |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0153633 |
BXGD003674 |
Malignant neoplasm of brain |
Neoplasms; Nervous System Diseases |
| C0153943 |
BXGD003689 |
Benign neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0154060 |
BXGD003697 |
Carcinoma in situ of stomach |
Digestive System Diseases; Neoplasms |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0175691 |
BXGD003999 |
Dubowitz syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0175693 |
BXGD004001 |
Russell-Silver syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0175701 |
BXGD004007 |
Aarskog syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0175702 |
BXGD004008 |
Williams Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206161 |
BXGD004167 |
Reticulocyte count (procedure) |
|
| C0206686 |
BXGD004241 |
Adrenocortical carcinoma |
Neoplasms; Endocrine System Diseases |
| C0220597 |
BXGD004292 |
Adult Hodgkin Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0220613 |
BXGD004297 |
Adult Soft Tissue Sarcoma |
|
| C0220644 |
BXGD004306 |
Childhood Hodgkin Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0220645 |
BXGD004307 |
Childhood Soft Tissue Sarcoma |
|
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0236734 |
BXGD004823 |
Caffeine related disorders |
|
| C0238033 |
BXGD004861 |
Carcinoma of Male Breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240538 |
BXGD005041 |
Convex nasal ridge |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0242621 |
BXGD005183 |
Isochromosomes |
Pathological Conditions, Signs and Symptoms |
| C0242723 |
BXGD005193 |
Parasitemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0242787 |
BXGD005195 |
Malignant neoplasm of male breast |
Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases |
| C0265202 |
BXGD005461 |
Seckel syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0265205 |
BXGD005462 |
Robinow Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases |
| C0265338 |
BXGD005522 |
Coffin-Siris syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms |
| C0265563 |
BXGD005550 |
Congenital dislocation of radial head |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265965 |
BXGD005592 |
Dyskeratosis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0268135 |
BXGD005831 |
Xeroderma pigmentosum, group A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0268140 |
BXGD005834 |
Xeroderma pigmentosum, group F |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0270972 |
BXGD006147 |
Cornelia De Lange Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0276275 |
BXGD006416 |
Disease due to Parvoviridae |
Infections |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279606 |
BXGD006647 |
Childhood Hepatocellular Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279607 |
BXGD006648 |
Adult Hepatocellular Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0279628 |
BXGD006659 |
Adenocarcinoma Of Esophagus |
Digestive System Diseases; Neoplasms |
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0280313 |
BXGD006737 |
Squamous cell carcinoma of oropharynx |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0280324 |
BXGD006740 |
Laryngeal Squamous Cell Carcinoma |
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0333307 |
BXGD006946 |
Superficial ulcer |
Pathological Conditions, Signs and Symptoms |
| C0334634 |
BXGD007144 |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0339682 |
BXGD007278 |
Regular astigmatism - corneal |
Eye Diseases |
| C0342443 |
BXGD007481 |
Adrenal Cushing's syndrome |
Endocrine System Diseases |
| C0343641 |
BXGD007636 |
Human papilloma virus infection |
Infections |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0345958 |
BXGD007751 |
Large cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0346153 |
BXGD007781 |
Breast Cancer, Familial |
Neoplasms; Skin and Connective Tissue Diseases |
| C0346191 |
BXGD007797 |
Carcinoma in situ of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0347915 |
BXGD007862 |
Congenital malformation syndromes associated with short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0398791 |
BXGD008233 |
Nijmegen Breakage Syndrome |
Nutritional and Metabolic Diseases |
| C0409338 |
BXGD008381 |
Flexion contracture - elbow |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424731 |
BXGD008542 |
Single transverse palmar crease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0426415 |
BXGD008560 |
Large nose |
|
| C0427460 |
BXGD008616 |
Red cell distribution width determination |
|
| C0431350 |
BXGD008668 |
Primary microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0496905 |
BXGD009048 |
Neoplasm of uncertain or unknown behavior of stomach |
Digestive System Diseases; Neoplasms |
| C0496920 |
BXGD009049 |
Neoplasm of uncertain or unknown behavior of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0524587 |
BXGD009232 |
Mean Corpuscular Volume (result) |
|
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0553580 |
BXGD009399 |
Ewings sarcoma |
Neoplasms |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600031 |
BXGD009681 |
Congenital absence of spleen |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0750952 |
BXGD010263 |
Biliary Tract Cancer |
Digestive System Diseases; Neoplasms |
| C0751434 |
BXGD010439 |
Classical phenylketonuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751571 |
BXGD010505 |
Cancer of Urinary Tract |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0796003 |
BXGD010775 |
Juberg-Marsidi syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases |
| C0796046 |
BXGD010788 |
Gurrieri Sammito Bellussi syndrome |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0856169 |
BXGD011096 |
Endothelial dysfunction |
|
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0860207 |
BXGD011220 |
Drug-Induced Liver Disease |
Digestive System Diseases; Chemically-Induced Disorders |
| C0878660 |
BXGD011381 |
Proportionate short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1136249 |
BXGD011715 |
Mental Retardation, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1261502 |
BXGD011856 |
Finding of Mean Corpuscular Hemoglobin |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1292769 |
BXGD012230 |
Precursor B-cell lymphoblastic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| C1301937 |
BXGD012300 |
Talipes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1304746 |
BXGD012343 |
RDW - Red blood cell distribution width result |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1306710 |
BXGD012372 |
Facial asymmetry |
Pathological Conditions, Signs and Symptoms |
| C1328407 |
BXGD012465 |
Hip Dysplasia |
Musculoskeletal Diseases; Wounds and Injuries |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1456873 |
BXGD013129 |
alpha^+^ Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1563697 |
BXGD013385 |
Chromosome Instability Syndromes |
Nutritional and Metabolic Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1709781 |
BXGD013633 |
Pyothorax-Associated Lymphoma |
|
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1837463 |
BXGD014235 |
Narrow face |
|
| C1839731 |
BXGD014397 |
11 pairs of ribs |
|
| C1840069 |
BXGD014433 |
Sandal gap |
|
| C1840379 |
BXGD014459 |
Cerebellar vermis hypoplasia |
|
| C1845055 |
BXGD014705 |
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C1849364 |
BXGD015045 |
Absent earlobe |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1855496 |
BXGD015502 |
Contiguous gene syndrome |
|
| C1855852 |
BXGD015554 |
Abnormally large globe |
|
| C1856911 |
BXGD015655 |
Ivory epiphyses |
|
| C1857042 |
BXGD015669 |
Sparse scalp hair |
|
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1857656 |
BXGD015731 |
Prematurely aged appearance |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1859455 |
BXGD015893 |
Small anterior fontanelle |
|
| C1859470 |
BXGD015896 |
Large basal ganglia |
|
| C1859477 |
BXGD015897 |
Hypoplasia of proximal radius |
|
| C1859478 |
BXGD015898 |
Hypoplasia of proximal fibula |
|
| C1859480 |
BXGD015899 |
Cone-shaped epiphyses of the phalanges of the hand |
|
| C1859481 |
BXGD015900 |
Abnormal finger flexion creases |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1865037 |
BXGD016289 |
Cone-shaped epiphysis |
|
| C1868683 |
BXGD016526 |
B-CELL MALIGNANCY, LOW-GRADE |
|
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C1960398 |
BXGD016658 |
HER2-positive carcinoma of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1970308 |
BXGD016833 |
Selective tooth agenesis |
|
| C1970431 |
BXGD016834 |
PITT-HOPKINS SYNDROME |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C2004493 |
BXGD016875 |
Leukemia, B-Cell |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C2145472 |
BXGD016931 |
Urothelial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2349952 |
BXGD017065 |
Oropharyngeal Carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3161174 |
BXGD018505 |
Hemoglobin H Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C3165106 |
BXGD018532 |
Infiltrating duct carcinoma of female breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C3266262 |
BXGD018600 |
Multiple Chronic Conditions |
Pathological Conditions, Signs and Symptoms |
| C3281203 |
BXGD018891 |
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3469521 |
BXGD018910 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3494623 |
BXGD018971 |
Mild dementia |
Nervous System Diseases; Mental Disorders |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3711387 |
BXGD019391 |
Autosomal Recessive Primary Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3811653 |
BXGD019662 |
Experimental Organism Basal Cell Carcinoma |
Neoplasms |
| C3887524 |
BXGD019892 |
Skin Erosion |
Skin and Connective Tissue Diseases |
| C3898127 |
BXGD020061 |
Non-Metastatic Childhood Soft Tissue Sarcoma |
|
| C4012968 |
BXGD020124 |
Mild global developmental delay |
|
| C4021790 |
BXGD020782 |
Abnormality of the skeletal system |
|
| C4021800 |
BXGD020790 |
Abnormality of dental enamel |
|
| C4024202 |
BXGD021303 |
Reduced number of teeth |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4289792 |
BXGD022497 |
Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form |
Infections |
| C4523846 |
BXGD023079 |
MSI-high |
|
| C4528257 |
BXGD023159 |
Corpuscular Hemoglobin Concentration Mean |
|
| C4544822 |
BXGD023286 |
Microsatellite instability-high colorectal cancer |
Digestive System Diseases; Neoplasms |
| C4551474 |
BXGD023304 |
Seckel syndrome 1 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551687 |
BXGD023392 |
Sarcoma of soft tissue |
Neoplasms |
| C4721414 |
BXGD023738 |
Mantle cell lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4721806 |
BXGD023772 |
Carcinoma, Basal Cell |
Neoplasms |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |