| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002418 |
BXGD000112 |
Amblyopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0002878 |
BXGD000137 |
Anemia, Hemolytic |
Hemic and Lymphatic Diseases |
| C0002879 |
BXGD000138 |
Anemia, Hemolytic, Acquired |
Hemic and Lymphatic Diseases |
| C0002889 |
BXGD000146 |
Anemia, Microangiopathic |
Hemic and Lymphatic Diseases |
| C0002895 |
BXGD000152 |
Anemia, Sickle Cell |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0002986 |
BXGD000165 |
Fabry Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0002994 |
BXGD000169 |
Angioedema |
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases |
| C0003119 |
BXGD000177 |
Anophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004623 |
BXGD000282 |
Bacterial Infections |
Infections |
| 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 |
| C0005779 |
BXGD000336 |
Blood Coagulation Disorders |
Hemic and Lymphatic Diseases |
| C0005910 |
BXGD000349 |
Body Weight |
Pathological Conditions, Signs and Symptoms |
| C0006111 |
BXGD000369 |
Brain Diseases |
Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0007766 |
BXGD000478 |
Intracranial Aneurysm |
Nervous System Diseases; Cardiovascular Diseases |
| C0007789 |
BXGD000488 |
Cerebral Palsy |
Nervous System Diseases |
| C0007820 |
BXGD000491 |
Cerebrovascular Disorders |
Nervous System Diseases; Cardiovascular 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 |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0010054 |
BXGD000647 |
Coronary Arteriosclerosis |
Cardiovascular Diseases |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011881 |
BXGD000760 |
Diabetic Nephropathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0013720 |
BXGD000861 |
Ehlers-Danlos Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014547 |
BXGD000927 |
Epilepsies, Partial |
Nervous System Diseases |
| C0015310 |
BXGD000976 |
Exotropia |
Eye Diseases; Nervous System Diseases |
| C0015393 |
BXGD000981 |
Eye Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0017654 |
BXGD001136 |
Glomerular Filtration Rate |
|
| C0017667 |
BXGD001142 |
Nodular glomerulosclerosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0017668 |
BXGD001143 |
Focal glomerulosclerosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018965 |
BXGD001258 |
Hematuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018989 |
BXGD001263 |
Hemiparesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0018991 |
BXGD001264 |
Hemiplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020542 |
BXGD001425 |
Pulmonary Hypertension |
Respiratory Tract Diseases |
| C0020545 |
BXGD001427 |
Hypertension, Renovascular |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye 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 |
| C0023508 |
BXGD001675 |
White Blood Cell Count procedure |
|
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023521 |
BXGD001679 |
Globoid cell leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023529 |
BXGD001682 |
Leukomalacia, Periventricular |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases |
| C0023531 |
BXGD001684 |
Leukoplakia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0024143 |
BXGD001741 |
Lupus Nephritis |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases |
| C0024591 |
BXGD001789 |
Malignant hyperpyrexia due to anesthesia |
Pathological Conditions, Signs and Symptoms |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026821 |
BXGD001933 |
Muscle Cramp |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| 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 |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0026850 |
BXGD001942 |
Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027708 |
BXGD002025 |
Nephroblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027726 |
BXGD002030 |
Nephrotic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027868 |
BXGD002053 |
Neuromuscular Diseases |
Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0033999 |
BXGD002448 |
Pterygium |
Eye Diseases |
| C0034372 |
BXGD002480 |
Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0034735 |
BXGD002487 |
Raynaud Phenomenon |
Cardiovascular Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035305 |
BXGD002529 |
Retinal Detachment |
Eye Diseases |
| C0035313 |
BXGD002532 |
Retinal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0035317 |
BXGD002533 |
Retinal Hemorrhage |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037315 |
BXGD002687 |
Sleep Apnea Syndromes |
Respiratory Tract Diseases; Nervous System Diseases |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0040420 |
BXGD002861 |
Tonometry |
|
| C0042373 |
BXGD002978 |
Vascular Diseases |
Cardiovascular Diseases |
| C0042580 |
BXGD002992 |
Vesico-Ureteral Reflux |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042798 |
BXGD003003 |
Low Vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0086432 |
BXGD003281 |
Hyalinosis, Segmental Glomerular |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151860 |
BXGD003490 |
Acquired porencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151891 |
BXGD003499 |
Retinal depigmentation |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases |
| C0151945 |
BXGD003508 |
Thrombosis of cerebral veins |
Nervous System Diseases; Cardiovascular Diseases |
| C0152021 |
BXGD003520 |
Congenital heart disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0154671 |
BXGD003726 |
Degenerative brain disorder |
Nervous System Diseases |
| C0155765 |
BXGD003819 |
Disease of capillaries |
Cardiovascular Diseases |
| C0162671 |
BXGD003971 |
MELAS Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0162701 |
BXGD003978 |
Polysomnography |
|
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0200637 |
BXGD004042 |
Monocyte count procedure |
|
| C0202117 |
BXGD004074 |
Low density lipoprotein cholesterol measurement |
|
| C0202236 |
BXGD004086 |
Triglycerides measurement |
|
| C0205682 |
BXGD004105 |
Waist-Hip Ratio |
|
| C0221011 |
BXGD004362 |
Malignant Atrophic Papulosis |
Skin and Connective Tissue Diseases; Cardiovascular Diseases |
| C0221021 |
BXGD004368 |
Microangiopathic hemolytic anemia |
Hemic and Lymphatic Diseases |
| C0221163 |
BXGD004395 |
Motor Disorders |
Mental Disorders |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0234146 |
BXGD004626 |
Absent reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0240063 |
BXGD005015 |
Coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242183 |
BXGD005139 |
Jaundice, Hemolytic |
Pathological Conditions, Signs and Symptoms |
| C0242339 |
BXGD005150 |
Dyslipidemias |
Nutritional and Metabolic Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265216 |
BXGD005466 |
X-linked hydrocephalus syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0265221 |
BXGD005470 |
Walker-Warburg congenital muscular dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0265341 |
BXGD005524 |
Rieger syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| 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 |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266484 |
BXGD005681 |
Schizencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266525 |
BXGD005686 |
Irido-corneal dysgenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266548 |
BXGD005692 |
Axenfeld anomaly (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266568 |
BXGD005695 |
Persistent Hyperplastic Primary Vitreous |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0268800 |
BXGD006041 |
Simple renal cyst |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0270173 |
BXGD006065 |
TORCH syndrome |
Pathological Conditions, Signs and Symptoms |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0270726 |
BXGD006093 |
Alexander Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270790 |
BXGD006105 |
Quadriparesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0278701 |
BXGD006566 |
Gastric Adenocarcinoma |
Digestive System Diseases; Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0302892 |
BXGD006864 |
Congenital porencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0338484 |
BXGD007188 |
Familial Hemiplegic Migraine |
Nervous System Diseases |
| C0338502 |
BXGD007192 |
Hypoplasia of the optic nerve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0338573 |
BXGD007199 |
Cerebral venous sinus thrombosis |
Nervous System Diseases; Cardiovascular Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0344232 |
BXGD007659 |
Blurred vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0392550 |
BXGD008054 |
Hemiplegia, Infantile |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0392885 |
BXGD008071 |
High density lipoprotein measurement |
|
| C0393591 |
BXGD008102 |
AICARDI-GOUTIERES SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases |
| C0395887 |
BXGD008172 |
Tympanosclerosis |
Otorhinolaryngologic Diseases |
| C0403440 |
BXGD008283 |
Thin basement membrane disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0424574 |
BXGD008534 |
Duration of sleep |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0428472 |
BXGD008630 |
Serum HDL cholesterol measurement |
|
| C0428474 |
BXGD008631 |
Serum LDL cholesterol measurement |
|
| C0428974 |
BXGD008642 |
Supraventricular arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0428975 |
BXGD008643 |
Supraventricular Arrhythmia by ECG Finding |
|
| C0431371 |
BXGD008676 |
Absence of septum pellucidum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0431718 |
BXGD008708 |
Multiple renal cysts |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0457133 |
BXGD008884 |
Muscle eye brain disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0521707 |
BXGD009166 |
Bilateral cataracts (disorder) |
Eye Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0543888 |
BXGD009300 |
Epileptic encephalopathy |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0599949 |
BXGD009679 |
Arterial Stiffness |
|
| 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 |
| C0687120 |
BXGD009837 |
Nephronophthisis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0748903 |
BXGD010206 |
spinal cord involvement |
|
| C0750880 |
BXGD010239 |
Monocyte count result |
|
| C0751093 |
BXGD010317 |
Dystonia, Limb |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751587 |
BXGD010513 |
CADASIL Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0852949 |
BXGD010957 |
Arteriopathic disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0917996 |
BXGD011425 |
Cerebral Aneurysm |
Nervous System Diseases; Cardiovascular Diseases |
| C0948008 |
BXGD011499 |
Ischemic stroke |
Nervous System Diseases; Cardiovascular Diseases |
| C1134719 |
BXGD011688 |
Invasive Ductal Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C1135196 |
BXGD011694 |
Heart Failure, Diastolic |
Cardiovascular Diseases |
| C1176475 |
BXGD011798 |
Ductal Carcinoma |
Neoplasms |
| C1263853 |
BXGD011898 |
Paralytic stroke |
Nervous System Diseases; Mental Disorders; Cardiovascular Diseases |
| C1263988 |
BXGD011905 |
Hemolytic disorder |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1280768 |
BXGD012127 |
Axenfeld syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1445957 |
BXGD013081 |
Serum total cholesterol measurement |
|
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1557375 |
BXGD013360 |
Blurred Vision, CTCAE |
|
| C1561643 |
BXGD013363 |
Chronic Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1691228 |
BXGD013492 |
Cystic Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1704436 |
BXGD013564 |
Peripheral Arterial Diseases |
Cardiovascular Diseases |
| C1838577 |
BXGD014321 |
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1843512 |
BXGD014592 |
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE |
|
| C1843517 |
BXGD014593 |
Retinal arteriolar tortuosity |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1857287 |
BXGD015692 |
Stroke-like episode |
Nervous System Diseases; Cardiovascular Diseases |
| C1858991 |
BXGD015841 |
Childhood Ataxia with Central Nervous System Hypomyelinization |
Nervous System Diseases |
| C1859726 |
BXGD015926 |
ARTERIAL TORTUOSITY SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1860475 |
BXGD015985 |
Retinal vascular tortuosity |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1862389 |
BXGD016126 |
ATRIAL SEPTAL DEFECT 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1867327 |
BXGD016448 |
RETINAL ARTERIES, TORTUOSITY OF |
|
| C1867441 |
BXGD016455 |
Pterygium Of Conjunctiva And Cornea |
Eye Diseases |
| C1867983 |
BXGD016479 |
PORENCEPHALY, FAMILIAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C1968949 |
BXGD016744 |
Cakut |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2673195 |
BXGD017188 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C2675650 |
BXGD017304 |
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly |
|
| C2678503 |
BXGD017421 |
AXENFELD-RIEGER SYNDROME, TYPE 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C2733158 |
BXGD017562 |
Cerebral Small Vessel Diseases |
Nervous System Diseases; Cardiovascular Diseases |
| C2930808 |
BXGD017896 |
Familial vascular leukoencephalopathy |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases |
| C2931870 |
BXGD018086 |
Familial schizencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2937358 |
BXGD018159 |
Cerebral Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C2938912 |
BXGD018165 |
Hyperintensity of cerebral white matter on MRI |
Pathological Conditions, Signs and Symptoms |
| C2938983 |
BXGD018170 |
Focal cortical dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C3178801 |
BXGD018538 |
Stroke, Lacunar |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C3281105 |
BXGD018882 |
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO |
|
| C3495488 |
BXGD018987 |
Axenfeld-Rieger syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3665346 |
BXGD019278 |
Unspecified visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3665386 |
BXGD019284 |
Abnormal vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3698507 |
BXGD019373 |
Post-traumatic Porencephaly |
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 |
| C3714873 |
BXGD019436 |
Axenfeld-Rieger Syndrome, Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3887499 |
BXGD019884 |
Renal cyst |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3887875 |
BXGD019923 |
Visual field defects |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4013035 |
BXGD020125 |
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES |
|
| C4022916 |
BXGD021037 |
Abnormal aldolase level |
|
| C4024809 |
BXGD021425 |
Chorioretinal dysplasia |
|
| C4025773 |
BXGD021784 |
Aplasia/Hypoplasia involving the skeletal musculature |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4049272 |
BXGD021918 |
Tumour budding |
|
| C4073168 |
BXGD022057 |
Abnormal lactate dehydrogenase activity |
|
| C4082144 |
BXGD022081 |
Metatarsal Valgus |
Musculoskeletal Diseases |
| C4082172 |
BXGD022086 |
Porencephalic cyst |
|
| C4082173 |
BXGD022087 |
Porencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C4082301 |
BXGD022089 |
Developmental Porencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C4476540 |
BXGD022824 |
Dilatation of the cerebral artery |
Nervous System Diseases; Cardiovascular Diseases |
| C4520843 |
BXGD023043 |
Pterygium of eye |
Eye Diseases |
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4551858 |
BXGD023425 |
Vesicoureteral Reflux 1 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C4551998 |
BXGD023472 |
Porencephaly, Type 1, Autosomal Dominant |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4707243 |
BXGD023712 |
Familial thoracic aortic aneurysm and aortic dissection |
|