C C2849 Congenital Abnormality Congenital Malformation Congenital Abnormality|Congenital Anomalies of Fetus|Congenital Deformity Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. A morphologic defect of an organ, part of an organ, or larger region of the body that results from an intrinsically abnormal developmental process during gestation. C36287 Congenital or Acquired Anatomic Abnormality C89328 Pediatric Disorder C89506 Newborn Screening Terminology C C34599 Excoriation Excoriation Excoriation of Skin Self-inflicted tearing or wearing off of skin. Self-inflicted tearing or wearing off of skin. C36281 Integumentary System Finding C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87095 Mottling Mottling Skin Mottling Irregularly shaped, patchy discolorations in the skin. Irregularly shaped and discolored patches on the skin. C36281 Integumentary System Finding C100104 Sign or Symptom C89506 Newborn Screening Terminology C C12326 Undescended Testes Undescended Testes Undescended Testicle|Undescended Testis The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. The failure of one or both testes to descend into the scrotum. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C89506 Newborn Screening Terminology C C81238 Brazelton Neonatal Behavioral Assessment Scale Brazelton Neonatal Behavorial Assessment Scale Brazelton Neonatal Behavioral Assessment Scale An assessment tool created by Dr. T. Berry Brazelton and his colleagues to assist caregivers in determining developmental strengths and weaknesses in infants from birth to the age of two months. A specific type of newborn behavioral examination performed in infants from birth to the age of two months. C81314 Newborn Behavorial Examination C89506 Newborn Screening Terminology C C84641 Clubfoot Talipes Club Foot|Clubfoot|Talipes Equinovarus The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. A congenital malformation involving one or both feet, in which the affected foot is rotated inward and downward. C84978 Osteochondrodysplasia C89506 Newborn Screening Terminology C C87118 Sacral Dimple Sacral Sinus Sacral Dimple|Sacral Pit A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area. A blind-ending, epithelial-lined tract that is located 5-25 mm from the anal verge. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C26737 Cyanosis Cyanosis Blue Spells A bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced concentration of oxygenated hemoglobin in the blood. A bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced concentration of oxygenated hemoglobin in the blood. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C32221 Body Part Body Part Body Structure Any part of an organism. C12219 Anatomic Structure, System, or Substance C89506 Newborn Screening Terminology C C34491 Clubbing of Fingers Clubbing of Fingers Finger Clubbing An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C61454 Basilar Rales Basilar Rales Basal Crepitations Abnormal breath sounds (crackles) heard on auscultation only in the bases of the lungs. They indicate inflammation, fluid, or infection in the air sacs of the lung. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C81232 Bayley Scale of Infant Development I Bayley Scale of Infant Development I Bayley Scale of Infant Development|Bayley Scales of Infant Development The first edition of a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavorial Examination C89506 Newborn Screening Terminology C C81235 Behavioral Rating Scale Behavioral Rating Scale Behavior Rating Scale A range of values designed to quantify the qualitative responses of an individual to a set of challenges. C81314 Newborn Behavorial Examination C89506 Newborn Screening Terminology C C87070 Hypotonia Hypotonia Poor Muscle Tone A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching. Abnormally low muscle tone. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87071 Ear Dimple Ear Dimple Ear Pit|Periauricular Dimple A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87072 Esophageal Atresia Esophageal Atresia Congenital Atresia of Esophagus A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. C97171 Congenital Gastrointestinal Disorder C89506 Newborn Screening Terminology C C87085 Hypertonia Hypertonia Increased Muscle Tone A condition of increased muscle tone manifested by increased resistance of the muscle to passive stretching. Abnormally high muscle tone. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87087 Intercostal Retractions Intercostal Retractions Intercostal Recession The marked inward movement of the muscles between the ribs during inhalation, indicating that there is reduced pressure in the thoracic cavity, and which can be a sign of breathing difficulties. The marked inward movement of the muscles between the ribs during inhalation, indicating that there is reduced pressure in the thoracic cavity, and which can be a sign of breathing difficulties. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87101 Neonatal Abstinence Syndrome Neonatal Abstinence Syndrome NAS A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. C101321 Neonatal Drug Withdrawal C89506 Newborn Screening Terminology C C87120 Single Palmar Crease Single Palmar Crease Single Transverse Palmar Crease A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87128 Loose Stool Loose Stool Liquid Stool|Watery Stool Frequent, loose, and watery stools are noted in most infants, even if they are fed formula, until they are six to eight weeks old; after that, the stools become firmer and less frequent. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C13257 Breast Milk Breast Milk Milk produced by female mammals for the purpose of feeding their young. C13236 Body Fluid or Substance C89506 Newborn Screening Terminology C C34484 Clonus Clonus A form of involuntary muscular movement characterized by alternating contractions and relaxation in rapid succession. In the context of reflex testing, the ability to elicit clonus indicates injury to the nerve tracts above the point at which the reflex was initiated. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C34832 Myoclonic Jerk Myoclonic Jerk A sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases, including epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jacob disease. A sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases, including epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jacob disease. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C36172 Sweating Sweating A watery secretion by the sweat glands that is primarily composed of salt, urea and minerals. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C38038 Tremor Tremor The shaking movement of the whole body or just a certain part of it, often caused by problems of the neurons responsible for muscle action. Unintentional trembling or shaking of one or more body parts. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C3890 Hypoxia Hypoxia A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). A condition in which there is low oxygen in the tissues. C45233 Respiratory System Finding C89506 Newborn Screening Terminology C C49676 Pulse Rate Pulse Rate The rate of the pulse as observed in an artery, expressed as beats per minute. It can be measured at several anatomical sites, including the wrist, neck, temple, groin, behind the knees, or on top of the foot. C35552 Cardiovascular System Finding C89506 Newborn Screening Terminology C C49677 Heart Rate Heart Rate The number of heartbeats per unit of time, usually expressed as beats per minute. C35552 Cardiovascular System Finding C89506 Newborn Screening Terminology C C49678 Respiratory Rate Respiratory Rate The rate of breathing (inhalation and exhalation) measured within in a unit time, usually expressed as breaths per minute. C45233 Respiratory System Finding C89506 Newborn Screening Terminology C C5039 Motor Manifestations Motor Manifestations The presence of an alteration in the ability to move one's body or any body parts in accordance with one's intent. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C50589 Hyperthermia Hyperthermia A condition characterized by an abnormally high body temperature. In a hyperthermic state, the hypothalamic set-point is normal but body temperature increases and overrides the ability to lose heat, resulting from exogenous heat exposure or endogenous heat production. Elevation of body temperature above normal due to the production or absorption of more heat than the body is able to dissipate. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C50644 Lung Overinflation Lung Overinflation Abnormal permanent enlargement of the lung air spaces distal to terminal bronchiole not resulted from wall destruction, e.g. due to loss of opposite lung. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C50685 Pallor Pallor An unusual or extreme paleness, state of decreased skin or mucosal coloration. A condition characterized by an abnormal loss of color to the skin or mucous membranes due to reduced delivery of saturated hemoglobin. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C50726 Regurgitation Regurgitation Flow in the opposite direction from normal, as the casting up of undigested food or gas from the stomach, or the backward flowing of blood into the heart, or between the chambers of the heart when a valve is incompetent. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C50746 Sneezing Sneezing A symptom consisting of the involuntary expulsion of air from the nose. The involuntary expulsion of air from the nose. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C64848 Hemoglobin Measurement Hemoglobin Measurement A quantitative measurement of the amount of hemoglobin present in a sample. C49286 Hematology Test C89506 Newborn Screening Terminology C C78500 Nasal Congestion Nasal Congestion The blockage of the nasal passage due to mucosal edema. It is usually the result of a viral infection or an allergic reaction. The blockage of the nasal passage due to mucosal edema or secretions. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C78718 Wheezing Wheezing A symptom and a finding during physical examination, characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways. The most common causes of wheezing are asthma, chronic obstructive pulmonary disease, tracheobronchitis, and pulmonary edema. A high-pitched breath sound resulting from a narrowing or obstruction of the small airways. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C81252 Gesell Developmental Schedule Gesell Developmental Schedule A scale used as an instrument to assess a child's motor and language development, as well as personal-social and adaptive behaviors. C81314 Newborn Behavorial Examination C89506 Newborn Screening Terminology C C81263 Mental Development Index Mental Development Index A sequential arrangement of information pertaining to the evolution of an individual's cognitive development. C81314 Newborn Behavorial Examination C89506 Newborn Screening Terminology C C81264 Mental Scale Mental Scale A range of values that characterizes an individual's mental development. C81314 Newborn Behavorial Examination C89506 Newborn Screening Terminology C C81304 Blood Product Blood Product Any natural or synthetic composition that replicates the structure or function of a native component of blood. C13236 Body Fluid or Substance C89506 Newborn Screening Terminology C C81308 Galactose Measurement Galactose Measurement The measurement of the amount of galactose in a biologic specimen. C49286 Hematology Test C89506 Newborn Screening Terminology C C81309 Heart Rate Score Heart Rate Score A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. C35552 Cardiovascular System Finding C89506 Newborn Screening Terminology C C84480 Heart Murmur Heart Murmur A periodic humming or blowing sound heard on auscultation of the heart that can indicate the presence of cardiac disease; murmurs are the result of vibrations caused by the turbulent flow of blood in the heart or great vessels. Murmurs are characterized according to the area of generation (mitral, aortic, tricuspid, or pulmonary) and according to the period of the cycle (systolic or diastolic). C35552 Cardiovascular System Finding C89506 Newborn Screening Terminology C C84923 Neural Tube Defect Neural Tube Defect A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. C97172 Congenital Nervous System Disorder C89506 Newborn Screening Terminology C C87069 Cleft Palate Cleft Palate A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development. C97171 Congenital Gastrointestinal Disorder C89506 Newborn Screening Terminology C C87073 Excessive Sucking Excessive Sucking A symptom of gastrointestinal dysfunction seen in neonates who have been exposed to drugs during pregnancy; often accompanied by excessive sucking of fists, fingers and thumbs. A symptom seen in neonates who have been exposed to drugs during pregnancy; often accompanied by excessive sucking of fists, fingers and thumbs. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87081 Heart Rhythm Heart Rhythm The recurrent, measured movements (rhythm) of a beating heart. C35552 Cardiovascular System Finding C89506 Newborn Screening Terminology C C87089 Irregular Respiration Irregular Respiration Irregular Breathing A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87093 Meconium Aspiration Syndrome Meconium Aspiration Syndrome A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. Aspiration of meconium around the time of delivery resulting in severe respiratory distress. C97173 Congenital Respiratory System Disorder C89506 Newborn Screening Terminology C C87096 Movement of Lip Corners Movement of Lip Corners During examination of the newborn infant, the examiner looks for symmetric movement of the lip corners. Movement of the lip corners is governed by the zygomatic major muscle. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87099 Nasal Flaring Nasal Flaring Enlargement of the nostrils during breathing; although there are many possible causes, it can be a sign of respiratory distress in young infants. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87111 Poor Feeding Poor Feeding Occurs either when an infant shows no interest in feeding or when there is an inability to take in adequate nutrition. Poor feeding is a nonspecific symptom of many disorders, including neurological, genetic, structural, metabolic, and infectious diseases. A non-specific symptom characterized by inadequate oral nutritional intake that may be associated with several different disorders. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87116 Rhonchi Rhonchi An abnormal sound similar to snoring heard on auscultation of the bronchial airways, suggesting a partial obstruction due to thick secretions, a muscular spasm, or a neoplasm. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87124 Central Nervous System Signs and Symptoms Central Nervous System Signs and Symptoms Signs and symptoms associated with disturbances within the central nervous system, which includes the brain, spinal cord and meninges. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87129 Weak Breathing Weak Breathing Shallow inhalations and exhalations that indicate respiratory distress. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87131 Yawning Yawning An involuntary deep inhalation with the mouth open, often a sign of drowsiness or boredom. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87169 High Pitched Cry High Pitched Cry An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes. An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes. C100104 Sign or Symptom C89506 Newborn Screening Terminology C C87175 Cleft Lip Cleft Lip A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. C97171 Congenital Gastrointestinal Disorder C89506 Newborn Screening Terminology C C89337 Congenital Musculoskeletal Defect Congenital Musculoskeletal Defect Congenital Abnormality of the Musculoskeletal System An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. C2849 Congenital Malformation C107377 Musculoskeletal System Disorder C89506 Newborn Screening Terminology C C12664 Abdomen Abdominal Cavity Abdomen The portion of the body that lies between the thorax and the pelvis. The portion of the body that lies between the thorax and the pelvis. (NCI) C32221 Body Part C89506 Newborn Screening Terminology C C46088 Cesarean Section Cesarean Birth Abdominal Delivery|C-Section|Caesarean Section|Cesarean Delivery|Cesarean Section Surgical delivery of one or more intrauterine fetuses though an abdominal incision. Surgical delivery of one or more intrauterine fetuses though an abdominal incision. C81179 Delivery Procedure C90491 Pregnancy Outcome C89506 Newborn Screening Terminology C C81247 Expected Date of Confinement Estimated Due Date EDC|EDD|Estimated Date of Confinement|Estimated Date of Delivery|Expected Date of Confinement The best estimated due date is determined by: last menstrual period (LMP) if confirmed by early ultrasound or no ultrasound performed, or early ultrasound if no known LMP or the ultrasound is not consistent with LMP, or known date of fertilization (e.g. Assisted Reproductive Technology (ART), Intrauterine Insemination (IUI)). Notes: 1. Ultrasound margin of error and "early" to be defined by SMFM/ACOG/NICHD workshop. 2. Pregnancy should not be re-dated by a later ultrasound after a best obstetrical estimate of EDD has been established. (adapted from reVITALize) The best estimated due date is determined by: last menstrual period (LMP) if confirmed by early ultrasound or no ultrasound performed, or early ultrasound if no known LMP or the ultrasound is not consistent with LMP, or known date of fertilization (e.g. Assisted Reproductive Technology (ART), Intrauterine Insemination (IUI)). C25164 Date C89506 Newborn Screening Terminology C C81248 Forceps Delivery Forceps Assisted Vaginal Delivery Forceps Assistance|Forceps Delivery|Forceps Operative Vaginal Delivery Application of forceps to the fetal head to facilitate vaginal birth. Application of forceps to the fetal head to facilitate vaginal birth. C81301 Vaginal Assisted Delivery C89506 Newborn Screening Terminology C C81253 Gestational Weeks Assessment Gestational Age Gestational Weeks Assessment Gestational age (written with both weeks and days, e.g. 39 weeks and 0 days) is calculated using the best obstetrical estimated due date (EDD) based on the following formula: Gestational Age = (280 - (EDD - Reference Date))/ 7. Note: Reference Date is the date on which you are trying to determine gestational age. (reVITALize) Gestational age (written with both weeks and days, e.g. 39 weeks and 0 days) is calculated using the best obstetrical estimated due date (EDD) based on the following formula: Gestational Age = (280 - (EDD - Reference Date))/ 7. Note: Reference Date is the date on which you are trying to determine gestational age. [verbatim from reVITALize] C89335 Life Stage C90341 Pediatric Intervention or Procedure C89506 Newborn Screening Terminology C C81271 Multiple Birth Plurality Multiple Birth Multiple fetuses birthed live or dead in a single pregnancy regardless of gestational age, and regardless of whether the fetuses were birthed on different dates. Multiple fetuses birthed live or dead in a single pregnancy regardless of gestational age, and regardless of whether the fetuses were birthed on different dates. C25742 Pregnancy C90491 Pregnancy Outcome C89506 Newborn Screening Terminology C C81283 Red Reflex Test Red Reflex Vision Test Red Reflex Test An optic examination in which an ophthalmoscope or retinoscope is placed approximately 30cm from the eye to visualize whether a reddish hue is reflected from the retina. An optic examination in which an ophthalmoscope or retinoscope is placed in front of the eye to determine whether a circular reddish hue is visible. C84749 Newborn Examination C89506 Newborn Screening Terminology C C81314 Newborn Behavioral Examination Newborn Behavorial Examination Newborn Behavioral Examination The assessment of behavior in neonates. A neurodevelopmental assessment of the strengths, adaptive responses, and possible vulnerabilities in neonates. C84749 Newborn Examination C89506 Newborn Screening Terminology C C87077 Congenital Ankyloblepharon Fused Eyelid Congenital Ankyloblepharon A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. A finding in extremely premature newborns in which the normal epithelial adhesions connecting the upper and lower eyelids have not yet degraded. C99208 Eye Finding C89506 Newborn Screening Terminology C C89520 Square Window Square Window Sign Square Window When testing the newborn infant for neuromuscular maturity, the "square window" test measures wrist flexibility and resistance to extensor stretching, The examiner straightens the infant's fingers and applies gentle pressure on the dorsum of the hand, close to the fingers, and then estimates the angle between the palm of the hand and the forearm. A test of neuromuscular maturity, which measures wrist extensibility and resistance to extensor stretching, used during the clinical assessment of gestational age and muscle tone during the first five days of life. C84749 Newborn Examination C89506 Newborn Screening Terminology C C101304 Hemolytic Disease of the Newborn Hemolytic Disease of the Newborn Erythroblastosis Fetalis|Isoimmune Hemolytic Disease of the Newborn A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of IgG antibodies from mother to child via the placenta. C3092 Hemoglobinopathy C98996 Neonatal Disorder C89506 Newborn Screening Terminology C C12401 Eye Eye Eyeball The organ of sight or vision. The organ of sight or vision. (NCI) C32221 Body Part C89506 Newborn Screening Terminology C C12421 Oral Cavity Oral Cavity Mouth The cavity located at the upper end of the alimentary canal, behind the teeth and gums that is bounded on the outside by the lips, above by the hard and soft palates and below by the tongue. The cavity located at the upper end of the alimentary canal, behind the teeth and gums that is bounded on the outside by the lips, above by the hard and soft palates and below by the tongue. (NCI) C32221 Body Part C89506 Newborn Screening Terminology C C15709 Genetic Testing Genetic Testing Genetic Test The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder. C25294 Laboratory Procedure C89506 Newborn Screening Terminology C C2931 Cardiovascular Disorder Cardiovascular Disorder Disorder of Cardiovascular System A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. C2991 Disease or Disorder C89506 Newborn Screening Terminology C C2962 Seizure Seizure Convulsion Sudden, involuntary skeletal muscular contractions of cerebral or brain stem origin. A paroxysmal surge of electrical activity in the brain that may result in physical or behavioral changes. C87124 Central Nervous System Signs and Symptoms C89506 Newborn Screening Terminology C C32078 Ankle Joint Ankle Joint Ankle A gliding joint between the distal ends of the tibia and fibula and the proximal end of the talus. A gliding joint between the distal ends of the tibia and fibula and the proximal end of the talus. (NCI) C32221 Body Part C89506 Newborn Screening Terminology C C32622 Foot Foot Feet The structure found below the ankle joint required for locomotion. The structure found below the ankle joint required for locomotion. (NCI) C32221 Body Part C89506 Newborn Screening Terminology C C32898 Knee Joint Knee Joint Knee|Tibiofemoral Joint A joint connecting the lower part of the femur with the upper part of the tibia. The lower part of the femur and the upper part of the tibia are attached to each other by ligaments. Other structures of the knee joint include the upper part of the fibula, located below and parallel to the tibia, and the patella which moves as the knee bends. A joint connecting the lower part of the femur with the upper part of the tibia. The lower part of the femur and the upper part of the tibia are attached to each other by ligaments. Other structures of the knee joint include the upper part of the fibula, located below and parallel to the tibia, and the patella which moves as the knee bends. (NCI) C32221 Body Part C89506 Newborn Screening Terminology C C3367 Finding Finding Observable Entity Clinical, laboratory or molecular evidence, or absence of evidence of disease. C90259 Pediatric Terminology C89506 Newborn Screening Terminology C C34383 Sickle Cell Disease Sickle Cell Disease Sickle Cell (SS only)|Sickling Disorder due to Hemoglobin S A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. C3092 Hemoglobinopathy C89506 Newborn Screening Terminology C C34816 Congenital Metabolic Disorder Congenital Metabolic Disorder Inborn Error of Metabolism A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. C3235 Metabolic Disease C97151 Congenital Systemic Disorder C89506 Newborn Screening Terminology C C34941 Pregnancy Complication Pregnancy Complication Complication Related to Pregnancy The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. C2959 Complication C89506 Newborn Screening Terminology C C64813 Thyrotropin Measurement Thyrotropin Measurement Thyroid Stimulating Hormone Measurement A quantitative measurement of the amount of thyrotropin present in a sample. C74742 Hormone Measurement C89506 Newborn Screening Terminology C C73437 Apgar Score Apgar Score The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C118807 Newborn or Infant Finding C89506 Newborn Screening Terminology C C81230 Apgar Test Apgar Test A test devised by Dr. Virginia Apgar to assess the overall health of a newborn upon birth. The test is administered at one and five minutes after birth and allows for the assignation of numerical values between zero and two for specific observations regarding skin color, pulse rate, reflex irritability, muscle tone and breathing. C84749 Newborn Examination C89506 Newborn Screening Terminology C C81242 Crown to Rump Length Measurement Crown to Rump Length Measurement CRL A measurement from the high prominence of the head to the low prominence of the buttocks of a fetus or embryo during ultrasound. This measurement is useful in determining gestational age. A measurement from the high prominence of the head to the low prominence of the buttocks of a fetus or embryo during ultrasound. C81253 Gestational Age C89506 Newborn Screening Terminology C C81254 Grasp Reflex Grasp Reflex Palmar Grasp Reflex An involuntary, primal response in the neonate to grasp the fingers when their palm is touched. This reflex is present until six months of age. An involuntary response in the neonate to grasp the fingers when the palm is touched, that disappears by 4-6 months of age. C81181 Infant Reflex C89506 Newborn Screening Terminology C C81279 Hemoglobin S to Total Hemoglobin Ratio Measurement Hemoglobin S to Total Hemoglobin Ratio Measurement Hemoglobin S Measurement The determination of the ratio of Hemoglobin S compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. C64848 Hemoglobin Measurement C89506 Newborn Screening Terminology C C81281 Phenylalanine to Tyrosine Ratio Measurement Phenylalanine to Tyrosine Ratio Measurement Phenylalanine/Tyrosine Ratio Measurement The determination of the ratio of phenylalanine compared to tyrosine present in a sample. The measurement may be expressed as a ratio or percentage. C81183 Amino Acid Measurement C89506 Newborn Screening Terminology C C81282 Dubowitz Score Dubowitz Score Ballard Score|Ballard/Dubowitz Score The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to determine an infant's gestational age and maturity. The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to estimate an infant's gestational age and maturity. C118807 Newborn or Infant Finding C89506 Newborn Screening Terminology C C81300 Vacuum Assisted Vaginal Delivery Vacuum Assisted Vaginal Delivery Vacuum Assistance|Vacuum Operative Vaginal Delivery Application of a vacuum device to the fetal head to facilitate vaginal birth. Application of a vacuum device to the fetal head to facilitate vaginal birth. C81301 Vaginal Assisted Delivery C89506 Newborn Screening Terminology C C81301 Vaginal Assisted Delivery Vaginal Assisted Delivery Assisted Vaginal Delivery Birth of the fetus through the vagina with the application of vacuum or forceps or any other instrument. Birth of the fetus through the vagina with the application of vacuum or forceps or any other instrument. C81303 Vaginal Delivery C89506 Newborn Screening Terminology C C81302 Vaginal Birth after Cesarean Delivery Vaginal Birth after Cesarean Delivery VBAC|Vaginal Birth after Caesarean|Vaginal Birth after Cesarean A vaginal birth in a woman with one or more previous cesarean births. (reVITALize) A vaginal birth in a woman with one or more previous cesarean births. [verbatim from reVITALize] C81303 Vaginal Delivery C89506 Newborn Screening Terminology C C81313 Neurologic Examination Neurologic Examination Neurological Examination The assessment of the functionality of the brain, spinal column, and nerves. C25214 Evaluation Procedure C89506 Newborn Screening Terminology C C81315 Phenylketonuria Phenylketonuria PKU An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays. C97090 Amino Acid Metabolism Disorder C3101 Genetic Disorder C89506 Newborn Screening Terminology C C81322 Step Reflex Step Reflex Stepping Reflex An involuntary, primal response in the neonate to take brisk steps when the feet are placed on a surface whilst in a supported standing position. C81181 Infant Reflex C89506 Newborn Screening Terminology C C81323 Sucking Reflex Sucking Reflex Suck Swallow Reflex An involuntary, primal response in the neonate when a nipple is placed on an infant's lips. An involuntary response in the neonate when a nipple is placed on an infant's lips to rhythmically suck, that disappears by 2-5 months of age. C81181 Infant Reflex C89506 Newborn Screening Terminology C C81324 Tonic Neck Reflex Tonic Neck Reflex ATNR|Asymmetrical Tonic Neck Reflex An involuntary, primal response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward. An involuntary response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward, that disappears by 4-6 months of age. C81181 Infant Reflex C89506 Newborn Screening Terminology C C84750 HELLP Syndrome HELLP Syndrome Hemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome Severe preeclampsia associated with any of the following findings: thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. Severe preeclampsia associated with any of the following findings: thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. C85021 Preeclampsia C89506 Newborn Screening Terminology C C87092 Large for Gestational Age Large for Gestational Age Large for Dates Baby A fetus or infant who is larger than expected for the age or gender, or who has a birth weight greater than the 90th percentile. An estimated fetal or neonatal weight exceeding 90% of expected weight for gestational age. C92711 Fetal Finding C89506 Newborn Screening Terminology C C87094 Micrognathism Micrognathism Congenital Micrognathism A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes. C89337 Congenital Musculoskeletal Defect C89506 Newborn Screening Terminology C C87107 Pupils Equal Round and Reactive to Light Pupils Equal Round and Reactive to Light Pupil Equal Round and Reacting to Light|Pupils Equal Round and Reactive to Light Result While performing an assessment of the eyes, the examiner notes whether the pupils are equal, round, and reactive to light. If all findings are normal, the abbreviation PERRL is noted in the examiner's account of the physical examination. C36280 Nervous System Finding C89506 Newborn Screening Terminology C C87113 Premature Rupture of Membrane Premature Rupture of Membranes PROM|Prelabor Rupture of Membranes|Term Premature Rupture of Membranes Spontaneous rupture of fetal membranes that occurs before the onset of labor. If rupture occurs before 37 weeks of gestation then the correct diagnosis is preterm premature rupture of membranes. Spontaneous rupture of fetal membranes that occurs before the onset of labor. If rupture occurs before 37 weeks of gestation then the correct diagnosis is preterm premature rupture of membranes. C34941 Pregnancy Complication C89506 Newborn Screening Terminology C C87121 Situs Inversus Situs Inversus Situs Ambiguus|Situs Inversus Viscerum A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). C97151 Congenital Systemic Disorder C89506 Newborn Screening Terminology C C87168 Group B Streptococcal Infection Group B Streptococcal Infection Streptococcus agalactiae Infection Group B Streptococcus, also known as Streptococcus agalactiae, colonizes the vaginal and gastrointestinal tracts of up to 45% of healthy women and may infect neonates in utero or during delivery, causing neonatal sepsis in 1-2% of colonized neonates. GBS infection may also occur in nonpregnant (particularly elderly) adults with underlying medical conditions, presenting as urinary tract infection, pneumonia, or soft-tissue infection. Infection of an infant from birth to three months caused by Group B Streptococcus (Streptococcus agalactiae) from a colonized mother. Invasive infections may include sepsis, meningitis, and pneumonia. C2890 Bacterial Disease C89506 Newborn Screening Terminology C C9011 Dermoid Cyst Dermoid Cyst Subcutaneous Cystic Teratoma A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure. In neonates, it is most commonly congenital and located in the subcutaneous tissues of the head, neck, or trunk. C2978 Cyst C89506 Newborn Screening Terminology C C90497 Galeazzi Test Galeazzi Test Allis Sign An assessment for developmental dysplasia of the hip or a leg-length discrepancy, the patient is placed in a supine position and the ankles are brought to the buttocks with the hips and knees flexed. The result is considered positive when the knees are at different heights. A physical examination performed on newborn infants to screen for developmental dysplasia of the hip that attempts to identify femoral length discrepancy. C84749 Newborn Examination C89506 Newborn Screening Terminology C C94835 Normal Spontaneous Vaginal Delivery Normal Spontaneous Vaginal Delivery NSVD|Normal Delivery|Spontaneous Vaginal Birth Birth of the fetus through the vagina without the application of vacuum or forceps or any other instrument. (adapted from reVITALize) Birth of the fetus through the vagina without the application of vacuum or forceps or any other instrument. [adapted from reVITALize] C81303 Vaginal Delivery C89506 Newborn Screening Terminology