| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002726 |
BXGD000125 |
Amyloidosis |
Nutritional and Metabolic Diseases |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003469 |
BXGD000195 |
Anxiety Disorders |
Mental Disorders |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004936 |
BXGD000295 |
Mental disorders |
Mental Disorders |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0009241 |
BXGD000595 |
Cognition Disorders |
Mental Disorders |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009952 |
BXGD000639 |
Febrile Convulsions |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013080 |
BXGD000797 |
Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014522 |
BXGD000922 |
Epidermodysplasia Verruciformis |
Infections; Skin and Connective Tissue Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014553 |
BXGD000931 |
Absence Epilepsy |
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 |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018536 |
BXGD001201 |
Hallux Valgus |
Musculoskeletal Diseases |
| C0019569 |
BXGD001337 |
Hirschsprung Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0019693 |
BXGD001346 |
HIV Infections |
Infections; Immune System Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0023462 |
BXGD001654 |
Acute Megakaryocytic Leukemias |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023508 |
BXGD001675 |
White Blood Cell Count procedure |
|
| C0024437 |
BXGD001772 |
Macular degeneration |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System 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 |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027746 |
BXGD002032 |
Nerve Degeneration |
Pathological Conditions, Signs and Symptoms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0028945 |
BXGD002099 |
oligodendroglioma |
Neoplasms |
| C0029131 |
BXGD002116 |
Abnormality of the optic nerve |
|
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System 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 |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0086237 |
BXGD003273 |
Epilepsy, Cryptogenic |
Nervous System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0153633 |
BXGD003674 |
Malignant neoplasm of brain |
Neoplasms; Nervous System Diseases |
| C0158945 |
BXGD003913 |
Congenital cytomegalovirus infection |
Infections |
| C0162635 |
BXGD003964 |
Angelman Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0162834 |
BXGD003988 |
Hyperpigmentation |
Skin and Connective Tissue Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0200638 |
BXGD004043 |
Eosinophil count procedure |
|
| C0221263 |
BXGD004427 |
Cafe-au-Lait Spots |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0231255 |
BXGD004489 |
Decreased body mass index |
Pathological Conditions, Signs and Symptoms |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0234533 |
BXGD004687 |
Generalized seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235942 |
BXGD004788 |
Abnormality of the skull |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0236018 |
BXGD004804 |
Aura |
Nervous System Diseases |
| C0236642 |
BXGD004815 |
Pick Disease of the Brain |
Nervous System Diseases; Mental Disorders |
| C0238397 |
BXGD004923 |
Pulmonary artery stenosis |
Cardiovascular Diseases |
| C0240543 |
BXGD005042 |
Bulbous nose |
|
| C0241210 |
BXGD005086 |
Speech Delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265660 |
BXGD005561 |
Syndactyly of the toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266589 |
BXGD005698 |
Congenital ear anomaly NOS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases |
| C0278061 |
BXGD006492 |
Abnormal mental state |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279070 |
BXGD006625 |
Adult Oligodendroglioma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0280475 |
BXGD006749 |
Childhood Oligodendroglioma |
Neoplasms |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376634 |
BXGD008006 |
Craniofacial Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0410702 |
BXGD008447 |
Adolescent idiopathic scoliosis |
Musculoskeletal Diseases |
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0424711 |
BXGD008541 |
Orbital separation diminished |
|
| C0431352 |
BXGD008669 |
Secondary microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0432040 |
BXGD008715 |
Simple syndactyly of toes, first web space |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454641 |
BXGD008848 |
Expressive language delay |
|
| C0454642 |
BXGD008849 |
Receptive language delay |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0494463 |
BXGD009029 |
Alzheimer Disease, Late Onset |
Nervous System Diseases; Mental Disorders |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0520966 |
BXGD009128 |
Abnormal coordination |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0542476 |
BXGD009276 |
Forgetful |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0575802 |
BXGD009521 |
Small hand |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598608 |
BXGD009668 |
Hyperhomocysteinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0679309 |
BXGD009765 |
physical symptom |
|
| C0683322 |
BXGD009782 |
Mental impairment |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0751111 |
BXGD010319 |
Awakening Epilepsy |
Nervous System Diseases |
| C0751396 |
BXGD010425 |
Well Differentiated Oligodendroglioma |
Neoplasms |
| C0752347 |
BXGD010721 |
Lewy Body Disease |
Nervous System Diseases; Mental Disorders |
| C0795875 |
BXGD010756 |
Chromosome 21 monosomy |
Pathological Conditions, Signs and Symptoms |
| C0853662 |
BXGD010975 |
Oestrogen deficiency |
|
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0877008 |
BXGD011325 |
Enzyme inhibition disorder |
|
| C0948807 |
BXGD011558 |
Hepatic impairment |
|
| C0949664 |
BXGD011583 |
Tauopathies |
Nervous System Diseases |
| C1142533 |
BXGD011758 |
Smooth philtrum |
|
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1261502 |
BXGD011856 |
Finding of Mean Corpuscular Hemoglobin |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1297882 |
BXGD012244 |
Partial Trisomy |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1386048 |
BXGD012950 |
Intrauterine retardation |
|
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1563716 |
BXGD013390 |
Thyroid Dysgenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1691215 |
BXGD013491 |
Penile hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1834055 |
BXGD013953 |
Underdeveloped nasal alae |
|
| C1834737 |
BXGD013994 |
Cutaneous syndactyly of toes |
|
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1837142 |
BXGD014201 |
Poor suck |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1837461 |
BXGD014234 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 |
|
| C1837503 |
BXGD014242 |
Small cerebral cortex |
|
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1837732 |
BXGD014261 |
Thickened helices |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1842366 |
BXGD014512 |
Low anterior hairline |
|
| C1842981 |
BXGD014547 |
NEUROTICISM |
Behavior and Behavior Mechanisms |
| C1843108 |
BXGD014556 |
Short palm |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1844806 |
BXGD014676 |
Weight less than 3rd percentile |
|
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849340 |
BXGD015039 |
Long palpebral fissure |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853377 |
BXGD015331 |
Enlarged cisterna magna |
|
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1855650 |
BXGD015521 |
Birth length less than 3rd percentile |
|
| C1855676 |
BXGD015528 |
Aplasia/Hypoplasia of the cerebellar vermis |
|
| C1855843 |
BXGD015551 |
Severe intrauterine growth retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1860475 |
BXGD015985 |
Retinal vascular tortuosity |
|
| C1860787 |
BXGD015997 |
DOWN SYNDROME CRITICAL REGION |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1867114 |
BXGD016439 |
Craniofacial disproportion |
|
| C1867873 |
BXGD016473 |
Failure to thrive in infancy |
|
| C1968537 |
BXGD016709 |
Severe speech delay |
|
| C1968949 |
BXGD016744 |
Cakut |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C3266262 |
BXGD018600 |
Multiple Chronic Conditions |
Pathological Conditions, Signs and Symptoms |
| C3276611 |
BXGD018692 |
Absent or delayed speech development |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3279839 |
BXGD018782 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 |
|
| C3532933 |
BXGD019059 |
Moderate expressive language delay |
|
| C3532947 |
BXGD019062 |
Severe receptive language delay |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021041 |
BXGD020531 |
Maternal fever in pregnancy |
|
| C4022561 |
BXGD020917 |
Maternal first trimester fever |
|
| C4022733 |
BXGD020970 |
Widened cerebral subarachnoid space |
|
| C4022765 |
BXGD020992 |
Abnormality of the subarachnoid space |
|
| C4023014 |
BXGD021067 |
Stereotypical hand wringing |
Mental Disorders |
| C4023681 |
BXGD021239 |
Delayed fine motor development |
|
| C4025701 |
BXGD021741 |
Abnormality of the cerebral cortex |
|
| C4025724 |
BXGD021758 |
Abnormality of the cerebral ventricles |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4511452 |
BXGD023002 |
Sporadic Parkinson disease |
Nervous System Diseases |
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4528668 |
BXGD023176 |
Acute myeloid leukaemia refractory |
Neoplasms |
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|