| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003706 |
BXGD000215 |
Arachnodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0008074 |
BXGD000519 |
Child Development Disorders, Pervasive |
Mental Disorders |
| C0008312 |
BXGD000527 |
Primary biliary cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0008924 |
BXGD000574 |
Cleft upper lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010606 |
BXGD000677 |
Adenoid Cystic Carcinoma |
Neoplasms |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014772 |
BXGD000948 |
Red Blood Cell Count measurement |
|
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016529 |
BXGD001068 |
Forced expiratory volume function |
|
| C0018798 |
BXGD001223 |
Congenital Heart 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 |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0021125 |
BXGD001483 |
Impulsive Behavior |
Behavior and Behavior Mechanisms |
| C0021704 |
BXGD001510 |
Intelligence |
Behavior and Behavior Mechanisms |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023267 |
BXGD001626 |
Fibroid Tumor |
Neoplasms |
| C0023508 |
BXGD001675 |
White Blood Cell Count procedure |
|
| C0025363 |
BXGD001867 |
Mental Retardation, Psychosocial |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026825 |
BXGD001934 |
Flaccid Muscle Tone |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029489 |
BXGD002163 |
Other alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0042133 |
BXGD002960 |
Uterine Fibroids |
Neoplasms |
| C0042580 |
BXGD002992 |
Vesico-Ureteral Reflux |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042834 |
BXGD003004 |
Vital capacity |
|
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0149630 |
BXGD003334 |
Bicuspid aortic valve |
Cardiovascular Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0162311 |
BXGD003935 |
Androgenetic Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0200638 |
BXGD004043 |
Eosinophil count procedure |
|
| C0200641 |
BXGD004044 |
Blood basophil count (lab test) |
|
| C0206062 |
BXGD004148 |
Lung Diseases, Interstitial |
Respiratory Tract Diseases |
| C0206161 |
BXGD004167 |
Reticulocyte count (procedure) |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0240543 |
BXGD005042 |
Bulbous nose |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241210 |
BXGD005086 |
Speech Delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0264303 |
BXGD005379 |
Laryngomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0266491 |
BXGD005683 |
Neuronal heterotopia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| 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 |
|
| C0376634 |
BXGD008006 |
Craniofacial Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0427201 |
BXGD008612 |
Floppy Muscles |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0427202 |
BXGD008613 |
Muscle Tone Atonic |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0427460 |
BXGD008616 |
Red cell distribution width determination |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0524587 |
BXGD009232 |
Mean Corpuscular Volume (result) |
|
| C0525045 |
BXGD009255 |
Mood Disorders |
Mental Disorders |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0566620 |
BXGD009490 |
Nasal voice |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0751330 |
BXGD010389 |
Unilateral Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0871470 |
BXGD011316 |
Systolic Pressure |
|
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| 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 |
| C1261502 |
BXGD011856 |
Finding of Mean Corpuscular Hemoglobin |
|
| C1269683 |
BXGD012001 |
Major Depressive Disorder |
Mental Disorders |
| C1275081 |
BXGD012056 |
Cardio-facio-cutaneous syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases |
| C1304746 |
BXGD012343 |
RDW - Red blood cell distribution width result |
|
| C1305855 |
BXGD012348 |
Body mass index |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1328407 |
BXGD012465 |
Hip Dysplasia |
Musculoskeletal Diseases; Wounds and Injuries |
| C1398312 |
BXGD012999 |
Narrow palate |
|
| C1578482 |
BXGD013427 |
Valgus deformities of feet |
Musculoskeletal Diseases |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1834582 |
BXGD013982 |
MYELOPROLIFERATIVE SYNDROME, TRANSIENT |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C1835807 |
BXGD014051 |
Prominent fingertip pads |
|
| C1836047 |
BXGD014074 |
Long face |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1837731 |
BXGD014260 |
Overfolded helix |
|
| C1842981 |
BXGD014547 |
NEUROTICISM |
Behavior and Behavior Mechanisms |
| C1843228 |
BXGD014565 |
Hypotrophy of the small hand muscles |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1844813 |
BXGD014679 |
Widely spaced teeth |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1853237 |
BXGD015319 |
Isolated cases |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1853482 |
BXGD015338 |
Pear-shaped nose |
|
| C1853490 |
BXGD015341 |
22q13.3 Deletion Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1855496 |
BXGD015502 |
Contiguous gene syndrome |
|
| C1857055 |
BXGD015672 |
Anteverted ears |
|
| 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 |
| C1857482 |
BXGD015706 |
Slender finger |
|
| C1857632 |
BXGD015724 |
Narrow palm |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1860789 |
BXGD015999 |
Leukemia, Megakaryoblastic, of Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1864871 |
BXGD016265 |
Chromosome 17q21.31 Deletion Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2676272 |
BXGD017331 |
Alopecia, Androgenetic, 3 |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C2678038 |
BXGD017394 |
Alopecia, Androgenetic, 2 |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C2931713 |
BXGD018050 |
Chromosome 17 deletion |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C3683846 |
BXGD019333 |
Chromosome 17p Deletion Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C3714581 |
BXGD019415 |
Multicystic Dysplastic Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021029 |
BXGD020526 |
Conspicuously happy disposition |
|
| C4023722 |
BXGD021253 |
Abnormality of hair texture |
|
| C4024172 |
BXGD021299 |
Abnormality of hair pigmentation |
|
| C4025161 |
BXGD021570 |
Positional foot deformity |
Musculoskeletal Diseases |
| C4049090 |
BXGD021913 |
Alopecia, Androgenetic, 1 |
|
| C4083212 |
BXGD022105 |
Alopecia, Male Pattern |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C4528257 |
BXGD023159 |
Corpuscular Hemoglobin Concentration Mean |
|