| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001948 |
BXGD000091 |
Alcohol consumption |
Behavior and Behavior Mechanisms |
| C0002949 |
BXGD000157 |
Aneurysm, Dissecting |
Cardiovascular Diseases |
| C0003706 |
BXGD000215 |
Arachnodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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 |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006277 |
BXGD000387 |
Bronchitis |
Infections; Respiratory Tract Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009782 |
BXGD000631 |
Connective Tissue Diseases |
Skin and Connective Tissue Diseases |
| C0010036 |
BXGD000642 |
Corneal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0013720 |
BXGD000861 |
Ehlers-Danlos Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015944 |
BXGD001028 |
Fetal Membranes, Premature Rupture |
Female Urogenital Diseases and Pregnancy Complications |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017181 |
BXGD001103 |
Gastrointestinal Hemorrhage |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0019322 |
BXGD001317 |
Umbilical hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0026267 |
BXGD001896 |
Mitral Valve Prolapse Syndrome |
Cardiovascular Diseases |
| C0026654 |
BXGD001914 |
Moyamoya Disease |
Nervous System Diseases; Cardiovascular Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0032181 |
BXGD002332 |
Platelet Count measurement |
|
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035305 |
BXGD002529 |
Retinal Detachment |
Eye Diseases |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0040433 |
BXGD002865 |
Tooth Crowding |
Stomatognathic Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0149630 |
BXGD003334 |
Bicuspid aortic valve |
Cardiovascular Diseases |
| C0151544 |
BXGD003436 |
Gastrointestinal carcinoma |
Digestive System Diseases; Neoplasms |
| C0155760 |
BXGD003817 |
Rupture of artery |
|
| C0156273 |
BXGD003847 |
Bladder Diverticulum |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0200638 |
BXGD004043 |
Eosinophil count procedure |
|
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235063 |
BXGD004718 |
Respiratory Depression |
Respiratory Tract Diseases |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241074 |
BXGD005078 |
Hyperextensible skin |
|
| C0241240 |
BXGD005089 |
Tall stature |
|
| C0265341 |
BXGD005524 |
Rieger syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0268342 |
BXGD005904 |
Ehlers-Danlos syndrome type 6 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0271183 |
BXGD006169 |
Severe myopia |
Eye Diseases |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0340643 |
BXGD007357 |
Dissection of aorta |
Cardiovascular Diseases |
| C0342387 |
BXGD007472 |
LH - luteinizing hormone deficiency |
Nervous System Diseases; Endocrine System Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423757 |
BXGD008504 |
Thin skin |
|
| C0423798 |
BXGD008510 |
Increased tendency to bruise |
Wounds and Injuries |
| C0426790 |
BXGD008577 |
Narrow thorax |
|
| C0428883 |
BXGD008639 |
Diastolic blood pressure |
|
| C0431659 |
BXGD008699 |
Hypoplasia of scrotum |
|
| C0431663 |
BXGD008700 |
Bilateral Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0685938 |
BXGD009829 |
Malignant neoplasm of gastrointestinal tract |
Digestive System Diseases; Neoplasms |
| C0694550 |
BXGD009852 |
Recurrent pneumonia |
Infections; Respiratory Tract Diseases |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0749379 |
BXGD010214 |
Thoracolumbar scoliosis |
Musculoskeletal Diseases |
| C0795690 |
BXGD010728 |
Congenital omphalocele |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0854107 |
BXGD010999 |
Subcutaneous hemorrhage |
Skin and Connective Tissue Diseases |
| C1291314 |
BXGD012209 |
Deficiency of monooxygenase |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1800706 |
BXGD013755 |
Idiopathic Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C1836308 |
BXGD014107 |
Generalized joint laxity |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836599 |
BXGD014136 |
Macrocephaly at birth |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1836996 |
BXGD014183 |
Disproportionate tall stature |
|
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1844592 |
BXGD014649 |
Soft skin |
|
| C1844597 |
BXGD014650 |
Molluscoid pseudotumors |
|
| C1844820 |
BXGD014681 |
Range of joint movement increased |
|
| C1845123 |
BXGD014714 |
Generalized neonatal hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1856714 |
BXGD015634 |
Palmoplantar cutis laxa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C1857025 |
BXGD015666 |
Progressive congenital scoliosis |
Musculoskeletal Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1962966 |
BXGD016678 |
Retinopathy, CTCAE |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2931384 |
BXGD018014 |
Moyamoya disease 1 |
Nervous System Diseases; Cardiovascular Diseases |
| C2936777 |
BXGD018133 |
Nevo syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3495488 |
BXGD018987 |
Axenfeld-Rieger syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3697248 |
BXGD019355 |
Short lower third of face |
|
| C3887638 |
BXGD019906 |
Failure to thrive in infant |
Pathological Conditions, Signs and Symptoms |
| C4021735 |
BXGD020743 |
Abnormality of the hip bone |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4021786 |
BXGD020779 |
Atypical scarring of skin |
Pathological Conditions, Signs and Symptoms |
| C4023719 |
BXGD021251 |
Spontaneous rupture of the globe |
|
| C4082172 |
BXGD022086 |
Porencephalic cyst |
|
| C4551497 |
BXGD023321 |
Ehlers-Danlos syndrome kyphoscoliotic type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4707243 |
BXGD023712 |
Familial thoracic aortic aneurysm and aortic dissection |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|