| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002312 |
BXGD000107 |
alpha-Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0002894 |
BXGD000151 |
Refractory anaemia with excess blasts |
Hemic and Lymphatic Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004903 |
BXGD000293 |
Beckwith-Wiedemann Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| 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 |
| C0010606 |
BXGD000677 |
Adenoid Cystic Carcinoma |
Neoplasms |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0016522 |
BXGD001067 |
Foramen Ovale, Patent |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018777 |
BXGD001217 |
Conductive hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018816 |
BXGD001234 |
Heart Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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 |
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023479 |
BXGD001663 |
Acute myelomonocytic leukemia |
Neoplasms |
| C0024301 |
BXGD001759 |
Lymphoma, Follicular |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| 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 |
| C0025363 |
BXGD001867 |
Mental Retardation, Psychosocial |
Pathological Conditions, Signs and Symptoms; 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 |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
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 |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026998 |
BXGD001959 |
Acute Myeloid Leukemia, M1 |
Neoplasms |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027708 |
BXGD002025 |
Nephroblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027766 |
BXGD002034 |
Nervous System Neoplasms |
Neoplasms; Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029882 |
BXGD002177 |
Otitis Media |
Otorhinolaryngologic Diseases |
| C0032914 |
BXGD002379 |
Pre-Eclampsia |
Female Urogenital Diseases and Pregnancy Complications |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0042580 |
BXGD002992 |
Vesico-Ureteral Reflux |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0043094 |
BXGD003026 |
Weight Gain |
Pathological Conditions, Signs and Symptoms |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0149782 |
BXGD003365 |
Squamous cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152236 |
BXGD003568 |
Talipes valgus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0158986 |
BXGD003916 |
Neonatal hypoglycemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0175693 |
BXGD004001 |
Russell-Silver syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0175695 |
BXGD004003 |
Sotos' syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| 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 |
| C0202239 |
BXGD004087 |
Uric acid measurement (procedure) |
|
| C0205682 |
BXGD004105 |
Waist-Hip Ratio |
|
| C0206064 |
BXGD004150 |
Microvascular Angina |
Cardiovascular Diseases |
| C0206716 |
BXGD004262 |
Ganglioglioma |
Neoplasms |
| C0220615 |
BXGD004298 |
Adult Acute Myeloblastic Leukemia |
Neoplasms |
| C0220621 |
BXGD004300 |
Childhood Acute Myeloid Leukemia |
Neoplasms |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0234860 |
BXGD004698 |
Weak cry |
|
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239479 |
BXGD004982 |
Round face |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241240 |
BXGD005089 |
Tall stature |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0263523 |
BXGD005320 |
Micronychia (disorder) |
Skin and Connective Tissue Diseases |
| C0265210 |
BXGD005463 |
Weaver syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0266054 |
BXGD005615 |
Premature tooth eruption |
|
| C0266298 |
BXGD005646 |
Accessory kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0271650 |
BXGD006227 |
Impaired glucose tolerance |
Nutritional and Metabolic Diseases |
| C0278061 |
BXGD006492 |
Abnormal mental state |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0332887 |
BXGD006908 |
Congenital hypertrophy |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376154 |
BXGD007980 |
Skin callus |
Skin and Connective Tissue Diseases |
| C0392885 |
BXGD008071 |
High density lipoprotein measurement |
|
| C0398370 |
BXGD008189 |
Lipedema |
Skin and Connective Tissue Diseases |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0400966 |
BXGD008266 |
Non-alcoholic Fatty Liver Disease |
Digestive System Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423823 |
BXGD008515 |
Thin nails |
Pathological Conditions, Signs and Symptoms |
| C0423867 |
BXGD008517 |
Fine hair |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0424621 |
BXGD008536 |
Body Fat Distribution |
|
| C0426870 |
BXGD008592 |
Large hand |
|
| C0426891 |
BXGD008595 |
Broad thumbs |
|
| C0431368 |
BXGD008673 |
Partial agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431718 |
BXGD008708 |
Multiple renal cysts |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454641 |
BXGD008848 |
Expressive language delay |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0544755 |
BXGD009310 |
Genu varum |
Musculoskeletal Diseases |
| C0544886 |
BXGD009319 |
Somatic mutation |
|
| C0545053 |
BXGD009323 |
Advanced bone age |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0559459 |
BXGD009468 |
Sacrococcygeal teratoma |
Neoplasms; Musculoskeletal Diseases; Nervous System Diseases |
| C0563243 |
BXGD009479 |
Poor coordination |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0576225 |
BXGD009526 |
Long foot |
Musculoskeletal Diseases |
| C0581342 |
BXGD009560 |
Redundant skin |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0683322 |
BXGD009782 |
Mental impairment |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0740391 |
BXGD009987 |
Middle Cerebral Artery Occlusion |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0746102 |
BXGD010136 |
Chronic lung disease |
Respiratory Tract Diseases |
| C0747085 |
BXGD010158 |
Recurrent otitis media |
Otorhinolaryngologic Diseases |
| C0750929 |
BXGD010256 |
Arnold-Chiari Malformation, Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0751679 |
BXGD010550 |
Ganglioglioma, Intracranial |
Neoplasms |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1301034 |
BXGD012282 |
Pancreatic intraepithelial neoplasia |
Neoplasms |
| C1305855 |
BXGD012348 |
Body mass index |
|
| C1306341 |
BXGD012360 |
Mental handicap |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1328504 |
BXGD012469 |
Hormone refractory prostate cancer |
Neoplasms; Male Urogenital Diseases |
| C1332201 |
BXGD012502 |
Adult Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332969 |
BXGD012567 |
Childhood Ganglioglioma |
Neoplasms |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1368404 |
BXGD012899 |
Hypopharyngeal Carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C1456873 |
BXGD013129 |
alpha^+^ Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1519346 |
BXGD013235 |
Skin Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1836996 |
BXGD014183 |
Disproportionate tall stature |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837279 |
BXGD014217 |
Hypoplastic toenails |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1839797 |
BXGD014409 |
Deep philtrum |
|
| C1840069 |
BXGD014433 |
Sandal gap |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1840380 |
BXGD014460 |
Persistent cavum septum pellucidum |
|
| C1842060 |
BXGD014491 |
Prominent supraorbital ridges |
|
| C1842364 |
BXGD014511 |
Central hypotonia |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1844505 |
BXGD014633 |
Pointed chin |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1846058 |
BXGD014780 |
Lubs X-linked mental retardation syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1853237 |
BXGD015319 |
Isolated cases |
|
| C1853377 |
BXGD015331 |
Enlarged cisterna magna |
|
| 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 |
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1858036 |
BXGD015763 |
Periorbital fullness |
|
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1863924 |
BXGD016203 |
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1864903 |
BXGD016270 |
Hyperinsulinemic hypoglycemia |
Nutritional and Metabolic Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865304 |
BXGD016309 |
Overfolding of the superior helices |
|
| C1866241 |
BXGD016389 |
Broad foot |
Musculoskeletal Diseases |
| C1866246 |
BXGD016391 |
Sparse anterior scalp hair |
|
| C1868571 |
BXGD016508 |
Highly arched eyebrow |
|
| C1879321 |
BXGD016572 |
Acute Myeloid Leukemia (AML-M2) |
Neoplasms |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2239219 |
BXGD016966 |
von Willebrand's factor (lab test) |
|
| C2243051 |
BXGD017008 |
Large head (disorder) |
|
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2673410 |
BXGD017200 |
Small midface |
|
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2825139 |
BXGD017770 |
Acute Myeloid Leukemia with Myelodysplasia-Related Changes |
Neoplasms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931574 |
BXGD018036 |
Chromosome 5, monosomy 5q35 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2936777 |
BXGD018133 |
Nevo syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C2981150 |
BXGD018211 |
Uranostaphyloschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2986703 |
BXGD018240 |
Overgrowth Syndrome |
Pathological Conditions, Signs and Symptoms |
| C3160815 |
BXGD018478 |
Intraductal papillary mucinous neoplasm |
|
| C3160889 |
BXGD018491 |
Node-negative breast cancer |
|
| C3276036 |
BXGD018682 |
High anterior hairline |
|
| C3277753 |
BXGD018722 |
Deep-set nails |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3808403 |
BXGD019546 |
Large fleshy ears |
|
| C3888018 |
BXGD019942 |
Congenital Hyperinsulinism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases |
| C3888194 |
BXGD019955 |
MIXED LINEAGE LEUKEMIA |
|
| C4014545 |
BXGD020150 |
Tatton Brown Rahman syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021821 |
BXGD020806 |
Abnormality of the urinary system |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C4023616 |
BXGD021229 |
Abnormality of immune system physiology |
|
| C4023915 |
BXGD021274 |
Abnormally low-pitched voice |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4025814 |
BXGD021806 |
Abnormality of the metaphysis |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4049938 |
BXGD021956 |
Physical Activity Measurement |
|
| C4054546 |
BXGD021984 |
Melanocortin 4 Receptor Deficiency |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4225412 |
BXGD022268 |
Spondylo-ocular syndrome |
|
| C4281993 |
BXGD022418 |
Neonatal respiratory distress |
Respiratory Tract Diseases |
| C4282128 |
BXGD022420 |
PATENT DUCTUS ARTERIOSUS 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4304526 |
BXGD022577 |
5q35 microduplication syndrome |
|
| C4551477 |
BXGD023307 |
SOTOS SYNDROME 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4551649 |
BXGD023382 |
Congenital Dysplasia Of The Hip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4551838 |
BXGD023417 |
Talipes transversoplanus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4725671 |
BXGD023833 |
High-Risk Neuroblastoma |
Neoplasms |