| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0003492 |
BXGD000198 |
Aortic coarctation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003862 |
BXGD000230 |
Arthralgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0005612 |
BXGD000317 |
Birth Weight |
Pathological Conditions, Signs and Symptoms |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0008297 |
BXGD000522 |
Choanal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0008479 |
BXGD000544 |
Chondrosarcoma |
Neoplasms |
| C0009080 |
BXGD000580 |
Clubbed Fingers |
Musculoskeletal Diseases |
| C0009375 |
BXGD000602 |
Colonic Neoplasms |
Digestive System Diseases; Neoplasms |
| 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 |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013366 |
BXGD000820 |
Dyschondroplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0014084 |
BXGD000891 |
Enchondromatosis |
Musculoskeletal Diseases |
| C0015230 |
BXGD000969 |
Exanthema |
Skin and Connective Tissue Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0016663 |
BXGD001071 |
Pathological fracture |
Wounds and Injuries |
| C0019553 |
BXGD001333 |
Hip Contracture |
Musculoskeletal Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020305 |
BXGD001374 |
Hydrops Fetalis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0020437 |
BXGD001381 |
Hypercalcemia |
Nutritional and Metabolic Diseases |
| C0020438 |
BXGD001382 |
Hypercalciuria |
Pathological Conditions, Signs and Symptoms |
| C0020502 |
BXGD001410 |
Hyperparathyroidism |
Endocrine System 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 |
| C0020626 |
BXGD001452 |
Hypoparathyroidism |
Endocrine System Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0024115 |
BXGD001732 |
Lung diseases |
Respiratory Tract Diseases |
| C0024221 |
BXGD001747 |
Lymphangioma |
Neoplasms |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0025995 |
BXGD001885 |
Micromelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026640 |
BXGD001912 |
Mouth Neoplasms |
Neoplasms; Stomatognathic Diseases |
| C0026857 |
BXGD001943 |
Musculoskeletal Diseases |
Musculoskeletal Diseases |
| C0027443 |
BXGD001992 |
Natal Teeth |
|
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027709 |
BXGD002026 |
Nephrocalcinosis |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029422 |
BXGD002142 |
Osteochondrodysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029458 |
BXGD002158 |
Osteoporosis, Postmenopausal |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0029464 |
BXGD002161 |
Osteosclerosis |
Musculoskeletal Diseases |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0035078 |
BXGD002505 |
Kidney Failure |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0035579 |
BXGD002560 |
Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0037299 |
BXGD002685 |
Skin Ulcer |
Skin and Connective Tissue Diseases |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0041948 |
BXGD002939 |
Uremia |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042487 |
BXGD002986 |
Venous Thrombosis |
Cardiovascular Diseases |
| C0085681 |
BXGD003237 |
Hyperphosphatemia (disorder) |
Nutritional and Metabolic Diseases |
| C0085682 |
BXGD003238 |
Hypophosphatemia |
Nutritional and Metabolic Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149911 |
BXGD003385 |
Humoral hypercalcemia of malignancy (disorder) |
Neoplasms; Nutritional and Metabolic Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151811 |
BXGD003478 |
Subcutaneous nodule |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0151825 |
BXGD003481 |
Bone pain |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0151849 |
BXGD003486 |
Alkaline phosphatase raised |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0153690 |
BXGD003684 |
Secondary malignant neoplasm of bone |
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases |
| C0155930 |
BXGD003834 |
Tooth Ankylosis |
Stomatognathic Diseases |
| C0158266 |
BXGD003878 |
Intervertebral Disc Degeneration |
Musculoskeletal Diseases |
| C0158465 |
BXGD003887 |
Acquired cubitus valgus |
|
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0220620 |
BXGD004299 |
Gastrointestinal Carcinoid Tumor |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0231712 |
BXGD004519 |
Waddling gait |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0241442 |
BXGD005099 |
Protrusion of tongue |
|
| C0263661 |
BXGD005338 |
Disorder of skeletal system |
Musculoskeletal Diseases |
| C0264142 |
BXGD005368 |
Spade-like hand |
Musculoskeletal Diseases |
| C0265290 |
BXGD005503 |
Metaphyseal chondrodysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265294 |
BXGD005506 |
Pyle metaphyseal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265295 |
BXGD005507 |
Jansen type metaphyseal chondrodysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265783 |
BXGD005575 |
Congenital hypoplasia of lung |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0266050 |
BXGD005613 |
Failure of exfoliation of primary tooth |
|
| C0271869 |
BXGD006275 |
Pseudohypoparathyroidism type I B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases |
| C0278488 |
BXGD006515 |
Carcinoma breast stage IV |
|
| C0282201 |
BXGD006799 |
Phosphate Diabetes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0332790 |
BXGD006899 |
Osseous ankylosis |
Musculoskeletal Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0343284 |
BXGD007613 |
Chondrodysplasia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0344490 |
BXGD007680 |
Sacral agenesis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0392476 |
BXGD008046 |
Epiphyseal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0410480 |
BXGD008429 |
Avascular Necrosis of Femur Head |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0410528 |
BXGD008430 |
Skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0426789 |
BXGD008576 |
Short thorax |
|
| C0426790 |
BXGD008577 |
Narrow thorax |
|
| C0426801 |
BXGD008579 |
Broad clavicle |
|
| C0426817 |
BXGD008585 |
Short ribs |
|
| C0545053 |
BXGD009323 |
Advanced bone age |
|
| C0549306 |
BXGD009368 |
Mesomelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0576226 |
BXGD009527 |
Short foot |
|
| C0584837 |
BXGD009578 |
Choanal stenosis |
Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0595939 |
BXGD009629 |
Stillbirth |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0877165 |
BXGD011338 |
Short phalanx of finger |
|
| C0878659 |
BXGD011380 |
Disproportionate short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C1134719 |
BXGD011688 |
Invasive Ductal Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1290587 |
BXGD012190 |
Failure of tooth eruption |
|
| C1314665 |
BXGD012386 |
Serum alkaline phosphatase raised |
|
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1395512 |
BXGD012989 |
Placental dysfunction |
|
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1561643 |
BXGD013363 |
Chronic Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1704356 |
BXGD013549 |
Enchondroma |
Neoplasms |
| C1832119 |
BXGD013799 |
Fibular hypoplasia |
|
| C1833325 |
BXGD013913 |
Thin bony cortex |
|
| C1834993 |
BXGD014006 |
Prominent supraorbital arches in adult |
|
| C1836195 |
BXGD014094 |
Short toe |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837082 |
BXGD014194 |
Metaphyseal cupping |
|
| C1837084 |
BXGD014195 |
Short metacarpal |
|
| C1838186 |
BXGD014301 |
Squared iliac bones |
|
| C1838662 |
BXGD014334 |
Metaphyseal irregularity |
|
| C1838779 |
BXGD014342 |
Eiken Skeletal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1839507 |
BXGD014379 |
Thick skull base |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1840307 |
BXGD014443 |
Distal shortening of limbs |
|
| C1843108 |
BXGD014556 |
Short palm |
|
| C1843331 |
BXGD014574 |
Generalized osteosclerosis |
Musculoskeletal Diseases |
| C1844704 |
BXGD014665 |
Platyspondyly |
|
| C1846821 |
BXGD014841 |
Abnormality of coagulation |
|
| C1848103 |
BXGD014905 |
Narrow pelvis bone |
|
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849292 |
BXGD015029 |
Advanced ossification of carpal bones |
|
| C1849293 |
BXGD015030 |
Advanced tarsal ossification |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1850135 |
BXGD015112 |
Flared metaphysis |
|
| C1850171 |
BXGD015120 |
Neonatal short-limb short stature |
|
| C1851542 |
BXGD015217 |
Limited hip movement |
|
| C1852222 |
BXGD015265 |
Failure of Tooth Eruption, Primary |
Stomatognathic Diseases |
| C1852504 |
BXGD015287 |
Misalignment of teeth |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854912 |
BXGD015441 |
Short long bone |
|
| C1854928 |
BXGD015443 |
Protuberant abdomen |
|
| C1855340 |
BXGD015490 |
Bowing of the long bones |
|
| C1856922 |
BXGD015658 |
Limited elbow flexion |
|
| C1857665 |
BXGD015734 |
Aplastic clavicle |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1859148 |
BXGD015856 |
Chondrodysplasia, blomstrand type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases |
| C1859158 |
BXGD015857 |
Laryngeal calcification |
|
| C1864100 |
BXGD016212 |
PSEUDOHYPOPARATHYROIDISM, TYPE IB |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865200 |
BXGD016298 |
Delayed epiphyseal ossification |
|
| C1866241 |
BXGD016389 |
Broad foot |
Musculoskeletal Diseases |
| C1866730 |
BXGD016419 |
Rhizomelia |
|
| C1963077 |
BXGD016680 |
Bone Pain, CTCAE 3.0 |
|
| C1969680 |
BXGD016789 |
High iliac wings |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2932715 |
BXGD018100 |
Pseudohypoparathyroidism Type 1B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C2945759 |
BXGD018189 |
aggressive cancer |
|
| C3714514 |
BXGD019409 |
Infection |
Infections |
| C3714534 |
BXGD019411 |
dowling-degos disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C4020957 |
BXGD020507 |
Abnormal trabecular bone morphology |
|
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4021626 |
BXGD020703 |
Lethal skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4021739 |
BXGD020747 |
Abnormality of the acetabulum |
|
| C4021790 |
BXGD020782 |
Abnormality of the skeletal system |
|
| C4021977 |
BXGD020853 |
Visceral angiomatosis |
|
| C4025056 |
BXGD021537 |
Failure of eruption of permanent teeth |
Stomatognathic Diseases |
| C4025814 |
BXGD021806 |
Abnormality of the metaphysis |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4551838 |
BXGD023417 |
Talipes transversoplanus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4554063 |
BXGD023559 |
Bone Pain, CTCAE 5.0 |
|
| C4721411 |
BXGD023735 |
Osteolysis |
Musculoskeletal Diseases |