| C0003486 |
BXGD000197 |
Aortic Aneurysm |
Cardiovascular Diseases |
| C0004106 |
BXGD000254 |
Astigmatism |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010278 |
BXGD000660 |
Craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| 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 |
| C0016506 |
BXGD001062 |
Foot Deformities |
Musculoskeletal Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018777 |
BXGD001217 |
Conductive hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| 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 |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020555 |
BXGD001431 |
Hypertrichosis |
Skin and Connective Tissue Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0023508 |
BXGD001675 |
White Blood Cell Count procedure |
|
| C0023787 |
BXGD001698 |
Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| 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 |
| C0026034 |
BXGD001887 |
Microstomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0030044 |
BXGD002186 |
Acrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0032326 |
BXGD002351 |
Pneumothorax |
Respiratory Tract Diseases |
| C0032580 |
BXGD002362 |
Adenomatous Polyposis Coli |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms |
| C0033036 |
BXGD002389 |
Atrial Premature Complexes |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0037301 |
BXGD002686 |
Skin Wrinkling |
|
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039075 |
BXGD002788 |
Syndactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0040961 |
BXGD002891 |
Tricuspid Valve Insufficiency |
Cardiovascular Diseases |
| C0079924 |
BXGD003103 |
Oligohydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0085136 |
BXGD003131 |
Central Nervous System Neoplasms |
Neoplasms; Nervous System Diseases |
| C0149630 |
BXGD003334 |
Bicuspid aortic valve |
Cardiovascular Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0175755 |
BXGD004016 |
Congenital absent nipple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0200633 |
BXGD004040 |
Neutrophil count (procedure) |
|
| C0200638 |
BXGD004043 |
Eosinophil count procedure |
|
| C0200641 |
BXGD004044 |
Blood basophil count (lab test) |
|
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240310 |
BXGD005030 |
Hypoplasia of the maxilla |
|
| C0240340 |
BXGD005031 |
Microdontia (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0240538 |
BXGD005041 |
Convex nasal ridge |
|
| C0241442 |
BXGD005099 |
Protrusion of tongue |
|
| C0263490 |
BXGD005314 |
Brittle hair |
|
| C0263523 |
BXGD005320 |
Micronychia (disorder) |
Skin and Connective Tissue Diseases |
| C0265783 |
BXGD005575 |
Congenital hypoplasia of lung |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0277959 |
BXGD006487 |
Coarse hair |
|
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0345382 |
BXGD007731 |
Gorlin Chaudhry Moss syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0425795 |
BXGD008553 |
Absent nipple (finding) |
|
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0431659 |
BXGD008699 |
Hypoplasia of scrotum |
|
| C0432073 |
BXGD008719 |
Defect of skull ossification |
|
| C0432333 |
BXGD008778 |
Abnormal dermatoglyphic pattern |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0432355 |
BXGD008780 |
Hypoplasia of nipple |
|
| C0432363 |
BXGD008783 |
Shagreen patch |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0566899 |
BXGD009494 |
Small labia majora |
|
| C0581342 |
BXGD009560 |
Redundant skin |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0747651 |
BXGD010175 |
Recurrent aspiration pneumonia |
Infections; Respiratory Tract Diseases |
| C0795932 |
BXGD010766 |
fontaine syndrome |
|
| C0853087 |
BXGD010964 |
Nail abnormality |
Pathological Conditions, Signs and Symptoms |
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0857490 |
BXGD011150 |
Granulocyte count |
|
| C1142533 |
BXGD011758 |
Smooth philtrum |
|
| C1280433 |
BXGD012125 |
Lipoatrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1835602 |
BXGD014038 |
Aplastic/hypoplastic lacrimal glands |
|
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836646 |
BXGD014141 |
Dermal translucency |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1838705 |
BXGD014341 |
Anteriorly placed anus |
|
| C1839829 |
BXGD014413 |
Short distal phalanx of finger |
|
| C1840379 |
BXGD014459 |
Cerebellar vermis hypoplasia |
|
| C1842366 |
BXGD014512 |
Low anterior hairline |
|
| C1844704 |
BXGD014665 |
Platyspondyly |
|
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849211 |
BXGD015023 |
Generalized hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1850640 |
BXGD015165 |
Long eyelashes in irregular rows |
|
| C1853235 |
BXGD015318 |
Sclerocornea |
Eye Diseases |
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855728 |
BXGD015536 |
Low posterior hairline |
|
| C1856266 |
BXGD015589 |
Coronal craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1857042 |
BXGD015669 |
Sparse scalp hair |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857539 |
BXGD015716 |
Deep palmar crease |
|
| C1857656 |
BXGD015731 |
Prematurely aged appearance |
|
| C1857657 |
BXGD015732 |
Reduced subcutaneous adipose tissue |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861339 |
BXGD016036 |
Absent distal phalanges |
|
| C1861869 |
BXGD016088 |
Underdeveloped supraorbital ridges |
|
| C1863872 |
BXGD016201 |
Coloboma of superior eyelid |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1868720 |
BXGD016531 |
Periventricular Nodular Heterotopia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2584409 |
BXGD017126 |
Prothrombin G20210A mutation |
Hemic and Lymphatic Diseases |
| C2676780 |
BXGD017346 |
Progeroid Syndrome, Congenital, Petty Type |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931653 |
BXGD018043 |
Petty Laxova Wiedemann syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3279407 |
BXGD018756 |
Hypoplasia of the abdominal wall musculature |
|
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C4021785 |
BXGD020778 |
Abnormality of the metacarpal bones |
Musculoskeletal Diseases |
| C4023636 |
BXGD021233 |
Aplasia/Hypoplasia of the nasal bone |
|
| C4024202 |
BXGD021303 |
Reduced number of teeth |
|
| C4024667 |
BXGD021363 |
Congenital craniofacial dysostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4082304 |
BXGD022090 |
Oligodontia |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|