| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007193 |
BXGD000451 |
Cardiomyopathy, Dilated |
Cardiovascular Diseases |
| C0008780 |
BXGD000571 |
Ciliary Motility Disorders |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009691 |
BXGD000622 |
Congenital cataract |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0023212 |
BXGD001616 |
Left-Sided Heart Failure |
Cardiovascular Diseases |
| C0023221 |
BXGD001619 |
Leg Length Inequality |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0025286 |
BXGD001850 |
Meningioma |
Neoplasms; Nervous System Diseases |
| 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 |
| C0026034 |
BXGD001887 |
Microstomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0037268 |
BXGD002675 |
Skin Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235527 |
BXGD004753 |
Heart Failure, Right-Sided |
Cardiovascular Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241165 |
BXGD005083 |
Thick skin |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0266449 |
BXGD005670 |
Congenital anomaly of brain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266589 |
BXGD005698 |
Congenital ear anomaly NOS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases |
| C0278877 |
BXGD006608 |
Adult Meningioma |
Neoplasms; Nervous System Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0431380 |
BXGD008680 |
Cortical Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0431659 |
BXGD008699 |
Hypoplasia of scrotum |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432355 |
BXGD008780 |
Hypoplasia of nipple |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0473586 |
BXGD008947 |
Michelin tire baby syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases |
| C0520459 |
BXGD009084 |
Necrotizing Enterocolitis |
Digestive System Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0683322 |
BXGD009782 |
Mental impairment |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1449563 |
BXGD013086 |
Cardiomyopathy, Familial Idiopathic |
Cardiovascular Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1762616 |
BXGD013753 |
Meningioma, benign, no ICD-O subtype |
Neoplasms; Nervous System Diseases |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1842688 |
BXGD014532 |
Hypoplasia of the brainstem |
|
| C1846460 |
BXGD014820 |
Abnormality of the outer ear |
|
| C1849211 |
BXGD015023 |
Generalized hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1853241 |
BXGD015321 |
Flat face |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1858036 |
BXGD015763 |
Periorbital fullness |
|
| C1860236 |
BXGD015969 |
Irregular hyperpigmentation |
Skin and Connective Tissue Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1955869 |
BXGD016612 |
Malformations of Cortical Development |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1959583 |
BXGD016637 |
Myocardial Failure |
Cardiovascular Diseases |
| C1961112 |
BXGD016674 |
Heart Decompensation |
Cardiovascular Diseases |
| C1962966 |
BXGD016678 |
Retinopathy, CTCAE |
|
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4014283 |
BXGD020139 |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 |
|
| C4021745 |
BXGD020752 |
Abnormality of the musculature |
|
| C4022024 |
BXGD020874 |
Upper limb asymmetry |
|
| C4024853 |
BXGD021440 |
Increased number of skin folds |
|
| C4024981 |
BXGD021511 |
Localized neuroblastoma |
Neoplasms |
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4551592 |
BXGD023365 |
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases |
| C4551720 |
BXGD023400 |
Primary Ciliary Dyskinesia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |