| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000846 |
BXGD000015 |
Agenesis |
|
| C0002453 |
BXGD000117 |
Amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0003466 |
BXGD000193 |
Anus, Imperforate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| 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 |
| C0005890 |
BXGD000345 |
Body Height |
|
| 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 |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007847 |
BXGD000492 |
Malignant tumor of cervix |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010036 |
BXGD000642 |
Corneal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013264 |
BXGD000808 |
Muscular Dystrophy, Duchenne |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014170 |
BXGD000902 |
Endometrial Neoplasms |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0014175 |
BXGD000904 |
Endometriosis |
Female Urogenital Diseases and Pregnancy Complications |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016667 |
BXGD001072 |
Fragile X Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0017654 |
BXGD001136 |
Glomerular Filtration Rate |
|
| 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 |
| C0023267 |
BXGD001626 |
Fibroid Tumor |
Neoplasms |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023452 |
BXGD001651 |
Childhood Acute Lymphoblastic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025221 |
BXGD001837 |
Meleda Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0025500 |
BXGD001874 |
Mesothelioma |
Neoplasms |
| 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 |
| C0025995 |
BXGD001885 |
Micromelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026850 |
BXGD001942 |
Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0031575 |
BXGD002308 |
Phocomelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0031925 |
BXGD002316 |
Pilonidal Cyst |
Neoplasms |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0040588 |
BXGD002879 |
Tracheoesophageal Fistula |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases |
| C0042065 |
BXGD002954 |
Genitourinary Neoplasms |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042133 |
BXGD002960 |
Uterine Fibroids |
Neoplasms |
| C0042834 |
BXGD003004 |
Vital capacity |
|
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152427 |
BXGD003590 |
Polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0201976 |
BXGD004063 |
Creatinine measurement, serum (procedure) |
|
| C0202239 |
BXGD004087 |
Uric acid measurement (procedure) |
|
| C0206081 |
BXGD004152 |
Hyperandrogenism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0206762 |
BXGD004290 |
Limb Deformities, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221373 |
BXGD004454 |
Claw hand |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0231679 |
BXGD004507 |
Ulnar deviation of the fingers |
|
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System 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 |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0264172 |
BXGD005371 |
Barrel chest |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0265554 |
BXGD005548 |
Ectrodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265660 |
BXGD005561 |
Syndactyly of the toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265998 |
BXGD005600 |
ANONYCHIA |
Pathological Conditions, Signs and Symptoms |
| C0266039 |
BXGD005612 |
Taurodontism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0349566 |
BXGD007928 |
Squamous cell carcinoma of tongue |
Neoplasms; Stomatognathic Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0409338 |
BXGD008381 |
Flexion contracture - elbow |
|
| C0409477 |
BXGD008386 |
Ankylosis of the elbow joint |
Musculoskeletal Diseases |
| C0425913 |
BXGD008554 |
Uterus absent (finding) |
|
| C0426801 |
BXGD008579 |
Broad clavicle |
|
| C0426811 |
BXGD008583 |
Pseudoarthrosis of clavicle |
Wounds and Injuries |
| C0431904 |
BXGD008713 |
Ulnar polydactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0432355 |
BXGD008780 |
Hypoplasia of nipple |
|
| C0521525 |
BXGD009139 |
Short neck |
|
| C0576226 |
BXGD009527 |
Short foot |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0685381 |
BXGD009809 |
Congenital hypoplasia of radius |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0728895 |
BXGD009919 |
Absent finger |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0740404 |
BXGD009991 |
Limb defects |
|
| C0751569 |
BXGD010504 |
Genitourinary Cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0751606 |
BXGD010523 |
Adult Acute Lymphocytic Leukemia |
|
| C0812413 |
BXGD010847 |
Malignant Pleural Mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0878659 |
BXGD011380 |
Disproportionate short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1153706 |
BXGD011769 |
Endometrial adenocarcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C1261470 |
BXGD011854 |
Congenital meningocele |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1301937 |
BXGD012300 |
Talipes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1398312 |
BXGD012999 |
Narrow palate |
|
| C1511789 |
BXGD013183 |
Desmoplastic |
|
| C1608408 |
BXGD013434 |
Malignant transformation |
|
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1698581 |
BXGD013519 |
Rokitansky Kuster Hauser syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C1720887 |
BXGD013694 |
Female Urogenital Diseases |
Female Urogenital Diseases and Pregnancy Complications |
| C1833762 |
BXGD013945 |
Decreased calvarial ossification |
|
| C1834405 |
BXGD013970 |
Nail dysplasia |
Pathological Conditions, Signs and Symptoms |
| C1836047 |
BXGD014074 |
Long face |
|
| C1836186 |
BXGD014089 |
Fibular aplasia |
|
| C1836192 |
BXGD014092 |
Aplasia/Hypoplasia involving the metacarpal bones |
|
| C1836219 |
BXGD014098 |
Carpal bone aplasia |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1844555 |
BXGD014644 |
Absent toenail |
Pathological Conditions, Signs and Symptoms |
| C1846433 |
BXGD014813 |
Prominent sternum |
|
| C1848651 |
BXGD014956 |
Al Awadi syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1848653 |
BXGD014957 |
Anteriorly displaced genitalia |
|
| C1848654 |
BXGD014958 |
Broad ribs |
|
| C1848657 |
BXGD014959 |
Long ear |
|
| C1848660 |
BXGD014960 |
Aplastic pubic bones |
|
| C1848670 |
BXGD014961 |
Aplasia/Hypoplasia of the phalanges of the hand |
|
| C1848671 |
BXGD014962 |
Aplasia/Hypoplasia of the tarsal bones |
|
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849305 |
BXGD015033 |
Aplasia/Hypoplasia of the pubic bone |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1851310 |
BXGD015206 |
Aplasia/hypoplasia of the femur |
|
| C1853638 |
BXGD015349 |
Broad neck |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1856728 |
BXGD015637 |
Fuhrmann syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1856730 |
BXGD015638 |
Short bowed radii |
|
| C1856732 |
BXGD015639 |
Aplasia/Hypoplasia of the fibula |
|
| 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 |
| C1859399 |
BXGD015886 |
Radial bowing |
|
| C1859461 |
BXGD015895 |
Femoral bowing |
Musculoskeletal Diseases |
| C1859481 |
BXGD015900 |
Abnormal finger flexion creases |
|
| C1860182 |
BXGD015964 |
Aplasia/Hypoplasia of metatarsal bones |
|
| C1862939 |
BXGD016144 |
AMYOTROPHIC LATERAL SCLEROSIS 1 |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1862941 |
BXGD016145 |
Amyotrophic Lateral Sclerosis, Sporadic |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1865027 |
BXGD016287 |
Hypoplastic iliac wing |
|
| C1865571 |
BXGD016330 |
Aplasia/Hypoplasia of the ulna |
|
| C1868578 |
BXGD016510 |
Patellar aplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2678397 |
BXGD017406 |
Aplasia of the ulna |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2930865 |
BXGD017908 |
Ramer Ladda syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2931852 |
BXGD018079 |
Clear-cell metastatic renal cell carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2938924 |
BXGD018167 |
Oestrogen receptor positive breast cancer |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3279947 |
BXGD018789 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
|
| C3536734 |
BXGD019071 |
Hypoplastic pelvis |
|
| C4023987 |
BXGD021283 |
Aplasia/Hypoplasia of the phalanges of the toes |
|
| C4024597 |
BXGD021332 |
Aplasia/Hypoplasia involving the pelvis |
|
| C4024660 |
BXGD021361 |
Aplasia/Hypoplasia of the sacrum |
|
| C4025033 |
BXGD021529 |
Aplasia/Hypoplasia involving the carpal bones |
|
| C4025074 |
BXGD021542 |
Aplasia/Hypoplasia of the 5th finger |
|
| C4025663 |
BXGD021717 |
Abnormality of tibia morphology |
|
| C4025787 |
BXGD021788 |
Calvarial skull defect |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4281601 |
BXGD022412 |
Foot oligodactyly |
|
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551649 |
BXGD023382 |
Congenital Dysplasia Of The Hip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4551993 |
BXGD023469 |
Amyotrophic Lateral Sclerosis, Familial |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |