NCIt Code NCIt PT Subset PT Subset SY NCIt Definition Subset Definition NCIt Code of First Parent First Parent NCIt Code of Second Parent Second Parent NCIt Code of Subset PT of NICHD Subset Subset Antiquated PT Subset Antiquated SY C100104 Sign or Symptom Sign or Symptom Signs or Symptoms Objective evidence of disease perceptible to the examining practitioner (sign) and subjective evidence of disease perceived by the patient (symptom). C3367 Finding C89506 Newborn Screening Terminology 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 C12326 Undescended Testes Cryptorchidism 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 persistent 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 C13235 Fetus Fetus An unborn or unhatched vertebrate in the later stages of development showing the main recognizable features of the mature being. C25190 Person C89506 Newborn Screening Terminology C13236 Body Fluid or Substance Body Fluid or Substance Material produced by living organisms; it can be a necessary constituent of, or product of an organismal process. C45306 Substance C89506 Newborn Screening Terminology 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 C15181 Anesthesia Procedure Anesthesia Procedure Treatment with a pharmacological substance that produces a loss of feeling. C25218 Intervention or Procedure C89506 Newborn Screening Terminology C15192 Blood Transfusion Blood Transfusion The injection of whole blood or a blood component directly into the bloodstream. C49236 Therapeutic Procedure C89506 Newborn Screening Terminology C15220 Diagnosis Diagnosis The investigation, analysis and recognition of the presence and nature of disease, condition, or injury from expressed signs and symptoms; also, the scientific determination of any kind; the concise results of such an investigation. C3367 Finding C89506 Newborn Screening Terminology C15642 Epidural Block Epidural Block An anesthetic procedure that involves administering pharmaceutical agents into the epidural space of the spinal canal. Frequently administered agents include local anesthetics and analgesics. C64381 Regional Anesthesia Procedure C89506 Newborn Screening Terminology 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 C16495 Demographics Demographics The statistical characterization of human populations or segments of human populations (e.g., characterization by age, sex, race, or income). C20189 Property or Attribute C89506 Newborn Screening Terminology C16564 Ethnic Group Ethnic Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. C16495 Demographics C89506 Newborn Screening Terminology C16576 Female Female A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. C28421 Sex C89506 Newborn Screening Terminology C16731 Newborn Newborn An age group comprised of infants during the first month after birth. C16423 Child C89506 Newborn Screening Terminology C17049 Race Race An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. C16495 Demographics C89506 Newborn Screening Terminology C17230 Ultrasonography Ultrasonography Ultrasound | Ultrasound Imaging A technique in which high-frequency sound waves are bounced off internal organs and the echo pattern is converted into a 2 dimensional picture of the structures beneath the transducer. C18020 Diagnostic Procedure C89506 Newborn Screening Terminology C17649 Other Other Different than the one(s) previously specified or mentioned. Different than the one(s) previously specified or mentioned. (NCI) C25180 Indicator C89506 Newborn Screening Terminology C17770 Maturation Maturation The act, or process, of natural progression in physical and psychological maturation from a previous, lower, or embryonic stage to a later, more complex, or adult stage. C19988 Organismal Process C89506 Newborn Screening Terminology C17953 Education Level Education Level An indication of the years of schooling completed in graded public, private, or parochial schools, and in colleges, universities, or professional schools. C16495 Demographics C89506 Newborn Screening Terminology C18772 Personal Medical History Personal Medical History A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies. C90492 Personal Information C89506 Newborn Screening Terminology C20197 Male Male A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. C28421 Sex C89506 Newborn Screening Terminology C20989 Physical Examination Physical Examination A systemic evaluation of the body and its functions using visual inspection, palpation, percussion and auscultation. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. C25214 Evaluation Procedure C89506 Newborn Screening Terminology C21514 Temporal Qualifier Temporal Qualifier Terms used to indicate units of time or other terms associated with time. C20189 Property or Attribute C89506 Newborn Screening Terminology C25160 City City A large and densely populated urban area; a city specified in an address. C16495 Demographics C89506 Newborn Screening Terminology C25164 Date Date The particular day, month and year an event has happened or will happen. C21514 Temporal Qualifier C89506 Newborn Screening Terminology C25178 Health Health Refers to a person's state of physical, mental and social well-being; usually it refers specifically to the state of being in good health, a state of complete physical, mental and social well-being, and does not consist only of the absence of disease or infirmity. In any organism health constitutes a form of homeostasis with inputs and outputs of energy and mass in approximate equilibrium allowing for growth and continued survival. In humans, a subjective feeling of well-being coming from somatic and cognitive perceptions is considered an essential component of health. C92722 Qualitative Concept C89506 Newborn Screening Terminology C25180 Indicator Indicator An event, entity or condition that typically characterizes a prescribed environment or situation and determines or aids in determining whether certain stated circumstances exist or criteria are satisfied. C92722 Qualitative Concept C89506 Newborn Screening Terminology C25190 Person Person A human being. C90259 NICHD Terminology C89506 Newborn Screening Terminology C25191 Person Name Person Name A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first. C90492 Personal Information C89506 Newborn Screening Terminology C25206 Temperature Temperature A measure of the average kinetic energy of a system of particles. Temperature may be quantified, in the context of thermodynamics, as the potential of one system to transfer thermal energy to another system until both systems reach a state of thermal equilibrium. C25447 Characteristic C89506 Newborn Screening Terminology C25207 Time Time The continuum of experience in which events pass from the future through the present to the past. C20189 Property or Attribute C89506 Newborn Screening Terminology C25215 Karyotype Karyotype The assessment of the chromosomal morphology and number in somatic cells of an individual. The assessment of the chromosomal morphology and number in somatic cells of an individual. C15709 Genetic Testing C89506 Newborn Screening Terminology C25294 Laboratory Procedure Laboratory Procedure Any procedure that involves testing or manipulating a sample of blood, urine, or other body substance in a laboratory setting. C18020 Diagnostic Procedure C89506 Newborn Screening Terminology C25334 Length Length The linear extent in space from one end of something to the other end, or the extent of something from beginning to end. C25447 Characteristic C89506 Newborn Screening Terminology C25381 Maiden Name Maiden Name A woman's surname before marriage. C90492 Personal Information C89506 Newborn Screening Terminology C25407 Address Address A standardized representation of the location of a person, business, building, or organization. C16495 Demographics C89506 Newborn Screening Terminology C25447 Characteristic Characteristic The distinguishing qualities or prominent aspect of a person, object, action, process, or substance. C20189 Property or Attribute C89506 Newborn Screening Terminology C25596 Breast Feeding Breast Feeding The nursing of an infant at the mother's breast. The nursing of an infant at the mother's breast. C16326 Behavior C89506 Newborn Screening Terminology C25598 Observation Observation Watching something and taking note of what happens. C18020 Diagnostic Procedure C89506 Newborn Screening Terminology C25621 Postal Code Postal Code Any system designed to expedite the sorting and delivery of mail by assigning a series of alphanumeric codes to each delivery area. Also used to refer to any individual delivery area code. C16495 Demographics C89506 Newborn Screening Terminology C25709 Unit of Measure Unit of Measure A named quantity in terms of which other quantities are measured or specified, used as a standard measurement of like kinds. C20189 Property or Attribute C89506 Newborn Screening Terminology C25737 Identification Identification The procedure of having an identity established. C92722 Qualitative Concept C89506 Newborn Screening Terminology C26734 Congenital Hypothyroidism Congenital Hypothyroidism A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality. Hypothyroidism, the cause of which is present at birth. C34816 Congenital Metabolic Disorder C89506 Newborn Screening Terminology 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 C26785 Goiter Goiter Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. Enlargement of the thyroid gland. C26836 Nutritional Disorder C3009 Endocrine System Disorder C89506 Newborn Screening Terminology C27644 Deafness Deafness An inherited or acquired condition characterized by the inability to hear in one or both ears. Inability to hear. C35731 Hearing Loss C89506 Newborn Screening Terminology C28294 Nutrition Nutrition That which is consumed to fuel necessary life processes of an organism. C45306 Substance C89506 Newborn Screening Terminology C28421 Sex Sex The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female. C25447 Characteristic C89506 Newborn Screening Terminology 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 C2890 Bacterial Infection Bacterial Infection Bacterial Disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. An infection caused by a bacterium. C128320 Infection C89506 Newborn Screening Terminology 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 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 C29719 Tobacco Smoking History Smoking History A record of an individual's background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others. C18772 Personal Medical History C89506 Newborn Screening Terminology C30010 US State US State One of the fifty states which is a member of the federation known as the United States of America. Other US geographic areas, such as Puerto Rico and the District of Columbia, are essentially equivalent to State when used in an address. C16495 Demographics C89506 Newborn Screening Terminology C3085 Hemangioma Hemangioma A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. A benign, vascular neoplasm characterized by the formation of capillary-sized vascular channels. C3262 Neoplasm C89506 Newborn Screening Terminology C32221 Body Part Body Part Body Structure Any part of an organism. C12219 Anatomic Structure, System, or Substance C89506 Newborn Screening Terminology C32621 Fontanelle Fontanelle The four gaps in the skull of a neonate or fetus where the sutures converge. The bulging or depression of the membranous soft spots can be indicative of intracranial fluid buildup or systemic dehydration. C32221 Body Part C89506 Newborn Screening Terminology C32856 Internal Nare Internal Nare The inner portion of the nostrils of the nose. C32221 Body Part C89506 Newborn Screening Terminology C3367 Finding Finding Observable Entity Clinical, laboratory or molecular evidence, or absence of evidence of disease. C90259 NICHD Terminology C89506 Newborn Screening Terminology C34197 Lanugo Lanugo Fine downy hair that covers the body of a human fetus beginning in the fifth month of gestation; it is usually shed by the ninth month of gestation. C32221 Body Part C89506 Newborn Screening Terminology C34383 Sickle Cell Disease Sickle Cell Disease Sickle Cell Anemia | Sickling Disorder due to Hemoglobin S A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion. C3092 Hemoglobinopathy C89506 Newborn Screening Terminology 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 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 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 C34675 Hemoglobin C Disease Hemoglobin C Disease An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice. An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic. C3092 Hemoglobinopathy C89506 Newborn Screening Terminology C34687 Diaphragmatic Hernia Diaphragmatic Hernia A congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse. C34685 Hernia C89506 Newborn Screening Terminology C34724 Low Birth Weight Low Birth Weight A birth weight that is less than 2500 grams. Birth weight less than 2500 grams. C76325 Birth Weight C89506 Newborn Screening Terminology C34781 Spastic Diplegia Spastic Diplegia A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. A type of spastic cerebral palsy characterized by increased muscle tone of the lower extremities bilaterally, particularly the legs, hips, and pelvis. C34460 Cerebral Palsy C89506 Newborn Screening Terminology 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 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 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 C35040 Strabismus Strabismus Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. C26767 Eye Disorder C89506 Newborn Screening Terminology 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 C36292 Laboratory Test Result Laboratory Test Result The outcome of a laboratory test. C3367 Finding C89506 Newborn Screening Terminology C3724 Cystic Hygroma Cystic Hygroma Cystic Lymphangioma A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. C3262 Neoplasm C2978 Cyst C89506 Newborn Screening Terminology C38013 Range Range The difference between the lowest and highest numerical values; the limits or scale of variation. C70766 Quantitative Concept C89506 Newborn Screening Terminology C38036 Audiometric Test Audiometric Test Testing conducted utilizing a manual or microprocessor audiometer to test for hearing loss. C84749 Newborn Examination C89506 Newborn Screening Terminology 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 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 C390 Contrast Agent Contrast Agent Substances administered during imaging procedures that allows delineation of internal structures. Contrast agents appear opaque due to the difference in absorption of X-rays or other electromagnetic waves and surrounding tissue. C1909 Pharmacologic Substance C89506 Newborn Screening Terminology C40978 Telephone Number Telephone Number A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network. C90492 Personal Information C89506 Newborn Screening Terminology C41147 Modality Modality A specific manner, characteristic, pattern of application or the employment of, any therapeutic agent or method of treatment, especially involving the physical treatment of a condition. C25447 Characteristic C89506 Newborn Screening Terminology C41148 Placement Placement Position or arrangement, as of the teeth; the state of being placed or arranged, as the assignment of a person to a appropriate clinical study. C92722 Qualitative Concept C89506 Newborn Screening Terminology 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 C48155 Gram Gram The metric unit of mass equal to one thousandth of a kilogram. One gram equals approximately 15.432 grains or 0.035 273 966 ounce. C25709 Unit of Measure C89506 Newborn Screening Terminology C48500 Inch Inch A traditional unit of length equal to 1/12 of a foot or 2.54 centimeters. C25709 Unit of Measure C89506 Newborn Screening Terminology C48519 Ounce Ounce The traditional unit of mass. The avoirdupois ounce is equal to 1/16 pound, or 28.349 5 grams, or 0.911 457 troy ounce. C25709 Unit of Measure C89506 Newborn Screening Terminology C48531 Pound Pound The traditional unit of mass. By international agreement, one avoirdupois pound is equal to exactly 0.453 592 37 kilogram, 16 ounces, or 1.215 28 troy pounds. C25709 Unit of Measure C89506 Newborn Screening Terminology C49236 Therapeutic Procedure Therapeutic Procedure An action or administration of therapeutic agents to produce an effect that is intended to alter or stop a pathologic process. C25218 Intervention or Procedure C89506 Newborn Screening Terminology C49487 No No The non-affirmative response to a question. C25180 Indicator C89506 Newborn Screening Terminology C49488 Yes Yes The affirmative response to a question. C25180 Indicator C89506 Newborn Screening Terminology C49668 Centimeter Centimeter A basic unit of length in the former CGS version of metric system, equal to one hundredth of a meter or approximately 0.393 700 787 inch. C25709 Unit of Measure C89506 Newborn Screening Terminology C49672 Vital Signs Measurement Vital Sign Measurement The act of assessing an individual's current temperature, heart rate, respiratory rate, pulse oxygenation, and blood pressure. C18020 Diagnostic Procedure C89506 Newborn Screening Terminology 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 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 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 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 C50484 Cephalohematoma Cephalohematoma Cephalhematoma A subperiosteal hemorrhage limited to the surface of one cranial bone, a usually benign condition seen in the newborn as a result of bone trauma. A subperiosteal hemorrhage limited to the surface of one cranial bone. It is seen in the newborn and often related to the birthing process. C81236 Birth Complication C92719 Fetal Disorder C89506 Newborn Screening Terminology 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 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 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 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 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 C52582 Referral Referral Sending a patient from one practitioner to another for health care services. C49236 Therapeutic Procedure C89506 Newborn Screening Terminology C54706 Blood Pressure Blood Pressure The pressure of the circulating blood against the walls of the blood vessels. C25447 Characteristic C89506 Newborn Screening Terminology 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 C62736 Cognitive Assessment Cognitive Assessment The examination of the cognitive capacities or deficits of an individual through the application of tests that probe that individual's ability to perform various mental activities such as perception, learning, and reasoning. C81313 Neurologic Examination C89506 Newborn Screening Terminology C64380 General Anesthesia Procedure General Anesthesia Procedure Actions that render a patient unconscious for the purpose of performing a diagnostic or interventional procedure. C15181 Anesthesia Procedure C89506 Newborn Screening Terminology C64381 Regional Anesthesia Procedure Regional Anesthesia Procedure The administration of pharmaceutical agents intended to produce loss of sensation in a particular anatomical region. C15181 Anesthesia Procedure C89506 Newborn Screening Terminology C64387 Millimole per Liter Millimole per Liter A unit of concentration (molarity unit) equal to one thousandth of a mole (10E-3 mole) of solute per one liter of solution. C25709 Unit of Measure C89506 Newborn Screening Terminology 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 C64848 Hemoglobin Measurement Hemoglobin Measurement A quantitative measurement of the amount of hemoglobin present in a sample. C49286 Hematology Test C89506 Newborn Screening Terminology C67015 Milligram per Deciliter Milligram per Deciliter A unit of mass concentration defined as the concentration of one milligram of a substance in unit volume of the mixture equal to one cubic deciliter or 100 cubic centimeters. It is also a unit of mass density (volumic mass) defined as the density of substance which mass equal to one milligram occupies the volume one cubic deciliter or 100 cubic centimeters. C25709 Unit of Measure C89506 Newborn Screening Terminology C67326 Nanogram per Deciliter Nanogram per Deciliter A unit of mass concentration defined as the concentration of one nanogram of a substance per unit volume of the mixture equal to one deciliter. The concept also refers to the unit of mass density (volumic mass) defined as the density of substance which mass equal to one nanogram occupies the volume of one deciliter. C25709 Unit of Measure C89506 Newborn Screening Terminology C67405 Microinternational Unit per Milliliter Microinternational Unit per Milliliter Unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one millionth of international unit per one milliliter of system volume. C25709 Unit of Measure C89506 Newborn Screening Terminology C68615 Birth Date Birth Date The calendar date on which a person was born. C25164 Date C89506 Newborn Screening Terminology C70933 High Test Reference Range High Test Reference Range Reported upper limit of the test reference range. C38013 Range C89506 Newborn Screening Terminology C70934 Low Test Reference Range Low Test Reference Range Reported low limit of the test reference range. C38013 Range C89506 Newborn Screening Terminology C73425 Sleep Sleep A natural and periodic state of rest during which consciousness of the world is suspended. C16326 Behavior C89506 Newborn Screening Terminology 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 C74794 Total Thyroxine Measurement Total Thyroxine Measurement The determination of the amount of free and bound thyroxine present in a sample. C74742 Hormone Measurement C89506 Newborn Screening Terminology C76325 Birth Weight Birth Weight The first weight of a newborn obtained after birth. A measured weight of a newborn obtained immediately or shortly after birth. C81328 Body Weight C89506 Newborn Screening Terminology C77606 Unit per Gram Unit per Gram An arbitrary unit of substance content expressed in unit(s) per gram. C25709 Unit of Measure C89506 Newborn Screening Terminology 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 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 C78727 Normal Reference Range Normal Reference Range Reported values within the typical or expected range. C38013 Range C89506 Newborn Screening Terminology C81178 Newborn Screening Newborn Screening A specific type of newborn examination performed to allow for early detection of disease(s) and/or disorder(s). A specific type of newborn examination performed to allow for early detection of disease(s) and/or disorder(s). C84749 Newborn Examination C89506 Newborn Screening Terminology C81179 Delivery Procedure Delivery Procedure Description of the method by which a fetus is delivered. C89340 Obstetric Procedure C89506 Newborn Screening Terminology C81181 Infant Reflex Infant Reflex Primitive reflex actions that newborns display in response to specific stimuli. These reflexes are involuntary and most disappear as the infant matures. Involuntary primitive reflex actions occurring in newborn infants in response to specific stimuli that disappear as the infant matures. C78342 Reflex C118807 Newborn or Infant Finding C89506 Newborn Screening Terminology C81184 Vernier Caliper Vernier Caliper A medical device that is a combination of ruler and caliper that can measure the distance between two points. The configuration of this device permits the measurement of internal dimensions. An instrument for measuring external or internal dimensions. It consists of an L-shaped frame with a linear scale along its longer arm and an L-shaped sliding attachment with a vernier, used to read directly the dimension of an object represented by the separation between the inner or outer edges of the two shorter arms. C62103 Device C89506 Newborn Screening Terminology C81227 One Minute After Birth One Minute After Birth The actual time that is one minute after the birth of a fetus. This period is most commonly referenced during the administration of the Apgar test. C25207 Time C89506 Newborn Screening Terminology C81228 Five Minutes After Birth Five Minutes After Birth The actual time that is five minutes after the birth of a fetus. This period is most commonly referenced during the administration of the Apgar test. C25207 Time C89506 Newborn Screening Terminology C81229 Alcohol Use History Alcohol Use History A description of an individual's current and past experience with alcoholic beverage consumption. C18772 Personal Medical History C89506 Newborn Screening Terminology 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 C81231 Attending Health Care Provider Attending Health Care Provider The individual assigned to be the primary care manager overseeing a patient's medical care during an episode of hospitalization. C25190 Person C89506 Newborn Screening Terminology 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 C81233 Behavioral Development Behavioral Development The evolution of actions, including reactions and responses to the environment, over an individual's lifespan. C17770 Maturation C89506 Newborn Screening Terminology C81234 Behavioral Assessment Behavioral Assessment Assessment of individual responses to age appropriate stimuli. C25214 Evaluation Procedure C89506 Newborn Screening Terminology 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 C81236 Birth Complication Birth Complication The development of a problematic medical situation that occurs concurrently with the birth of a neonate. C2959 Complication C89506 Newborn Screening Terminology C81237 Birth Facility Birth Facility The facility which provides a setting with provisions for monitoring and delivering babies. C16495 Demographics C89506 Newborn Screening Terminology 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 C81239 Cause of Death Cause of Death The circumstance or condition that results in the death of a living being. C3367 Finding C89506 Newborn Screening Terminology C81240 Cellular Telephone Number Cellular Telephone Number The sequence of numbers or characters, that when dialed, connects to a particular cellular telephone. C40978 Telephone Number C89506 Newborn Screening Terminology C81241 Cognitive Development Cognitive Development The evolution of an individual's problem solving skills, memory, language development, and ability to process information about their environment. C17770 Maturation C89506 Newborn Screening Terminology 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 C81244 Deceased Sibling Deceased Sibling The historical fact that a legal or consanguineous brother or sister has died. C90491 Pregnancy Outcome C89506 Newborn Screening Terminology C81245 Denver Development Screening Test Denver Development Screening Test A test developed at the University of Colorado Medical Center to assess the developmental status of infants and children from birth to six years of age. C84749 Newborn Examination C89506 Newborn Screening Terminology C81246 Drug Use History Drug Use History A description of an individual's current and past use and/or abuse of drugs and chemicals. This includes prescription medication, illicit drugs and recreational substances. C18772 Personal Medical History C89506 Newborn Screening Terminology 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 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 C81249 Infant Formula Infant Formula A nutritional substitute for breast milk, usually with a foundation of cow or soy milk. C1909 Pharmacologic Substance C89506 Newborn Screening Terminology C81251 Galactose-1-Phosphate Uridyltransferase Measurement Galactose-1-Phosphate Uridyltransferase Measurement The measurement of the galactose-1-phosphate uridyltransferase in a biologic specimen. C25294 Laboratory Procedure C89506 Newborn Screening Terminology 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 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 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 C81255 Head Circumference Head Circumference A circumferential measurement of the head at the widest point, which is traditionally above the eyebrows. The widest measurement of the head, when it is measured at its occipitofrontal circumference. C25334 Length C89506 Newborn Screening Terminology C81256 Imaging Information Imaging Information A collection of data pertinent to a radiographic study. C18772 Personal Medical History C89506 Newborn Screening Terminology C81257 Last Menstrual Period Last Menstrual Period The first day of the female's last menstrual cycle. C92720 Pregnancy Finding C89506 Newborn Screening Terminology C81258 Last Screening Last Screening The most recent screening. C25164 Date C89506 Newborn Screening Terminology C81259 Left Ear Left Ear The organ of hearing located on the left side of the head. C32221 Body Part C89506 Newborn Screening Terminology C81260 Local Anesthesia Procedure Local Anesthesia Procedure The temporary suppression of sensation at a specific region of the body by pharmacological intervention. This type of anesthesia does not induce unconsciousness in the patient. C15181 Anesthesia Procedure C89506 Newborn Screening Terminology C81262 Medical Record Number Medical Record Number An identifying number within an institution that is used to reference a subject's medical information. C18772 Personal Medical History C89506 Newborn Screening Terminology 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 C81264 Mental Scale Mental Scale A range of values that characterizes an individual's mental development. C81314 Newborn Behavorial Examination C89506 Newborn Screening Terminology C81267 Feeding Method Feeding Method A description of the technique for the manner in which a subject is administered food. The technique for delivery of enteral nutrition. C3367 Finding C89506 Newborn Screening Terminology C81268 Molar Ratio Molar Ratio The relative number of moles of one substance to another in a chemical reaction. C25709 Unit of Measure C89506 Newborn Screening Terminology C81269 Motor Development Motor Development The evolution of physical movement over an individual's lifespan. C17770 Maturation C89506 Newborn Screening Terminology C81270 Newborn Motor Scale Newborn Motor Scale A range of values used to quantify newborn motor development. C118807 Newborn or Infant Finding C89506 Newborn Screening Terminology 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. C90491 Pregnancy Outcome C25742 Pregnancy C89506 Newborn Screening Terminology C81272 First Feeding First Feeding The first time that a neonate is provided nutrition. C25207 Time C89506 Newborn Screening Terminology C81273 Doctor's Information Doctor's Information A collection of information about a patient's doctor. C18772 Personal Medical History C89506 Newborn Screening Terminology C81275 Pass Pass One of two possible results of a pass/fail assessment; when the result satisfies a condition. C25180 Indicator C89506 Newborn Screening Terminology C81276 Hemoglobin A to Total Hemoglobin Ratio Measurement Hemoglobin A to Total Hemoglobin Ratio Measurement The determination of the ratio of Hemoglobin A 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 C81277 Hemoglobin A2 to Total Hemoglobin Ratio Measurement Hemoglobin A2 to Total Hemoglobin Ratio Measurement The determination of the ratio of Hemoglobin A2 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 C81278 Hemoglobin C to Total Hemoglobin Ratio Measurement Hemoglobin C to Total Hemoglobin Ratio Measurement The determination of the ratio of Hemoglobin C 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 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 C81280 Phenylalanine Measurement Phenylalanine Measurement The measurement of the amount of phenylalanine in a biologic specimen. C81183 Amino Acid Measurement C89506 Newborn Screening Terminology 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 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 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 C81284 Residential Telephone Number Residential Telephone Number The sequence of numbers or characters, that when dialed, connects to a particular residential telephone. C40978 Telephone Number C89506 Newborn Screening Terminology C81285 Right Ear Right Ear The organ of hearing located on the right side of the head. C32221 Body Part C89506 Newborn Screening Terminology C81286 Collection Date Collection Date The date on which the sample or data was collected. C25164 Date C89506 Newborn Screening Terminology C81287 Collection Time Collection Time The hour, minute, and/or second at which the sample or data was collected. C25207 Time C89506 Newborn Screening Terminology C81288 S-Beta Thalassemia S-Beta Thalassemia A disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene. A heterozygous state in which a person has a loss of function mutation in one beta globin allele together with a hemoglobin S allele. C35069 Thalassemia C89506 Newborn Screening Terminology C81289 Image Identifier Image Identifier A sequence of letters, numbers, or other characters that specifically identifies a particular image. C18772 Personal Medical History C89506 Newborn Screening Terminology C81290 Shoulder Dystocia Shoulder Dystocia A birth complication caused by impaction of the anterior shoulder against the maternal symphysis pubis that requires additional maneuvers to relieve impaction of the fetal shoulder and allow for delivery. A birth complication caused by impaction of the anterior shoulder against the maternal symphysis pubis that requires additional maneuvers to relieve impaction of the fetal shoulder and allow for delivery. C81236 Birth Complication C89506 Newborn Screening Terminology C81291 Sick Newborn Sick Newborn A neonate that is unwell. C16731 Newborn C89506 Newborn Screening Terminology C81292 Social History Social History Past events that occurred between individuals and/or their communities. C18772 Personal Medical History C89506 Newborn Screening Terminology C81293 Street Number Street Number The numeric or alphabetic identifier of a building on a thoroughfare. C16495 Demographics C89506 Newborn Screening Terminology C81294 Submitting Facility Submitting Facility The hospital or medical institution that is submitting data or information. C16495 Demographics C89506 Newborn Screening Terminology C81296 Birth Time Birth Time The hour, minute, and/or second at which birth occurs. C25207 Time C89506 Newborn Screening Terminology C81297 Point in Time Test Given Point in Time Test Given The hour, minute, and/or second that an examination was administered. C25207 Time C89506 Newborn Screening Terminology C81298 Total Body Length Total Body Length The total linear extent of the body. The total linear extent of the body measured from the crown of the head to the heel in the recumbent position. C25334 Length C89506 Newborn Screening Terminology 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 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 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 C81303 Vaginal Delivery Vaginal Delivery Birth of the fetus through the vagina. Birth of the fetus through the vagina. C81179 Delivery Procedure C89506 Newborn Screening Terminology 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 C81305 Bottle Feeding Bottle Feeding Provision of liquid nutrition via a closed container system with a rubber like mouthpiece resembling a nipple. Delivery of enteral nutrition by a bottle. C81267 Feeding Method C89506 Newborn Screening Terminology C81306 Breathing Effort Score Breathing Effort Score A component of the Apgar score, it is the numerical value assigned to the assessment of breathing effort by a neonate. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry. A component of the Apgar score, it is the numerical value assigned to the assessment of the newborn's breathing effort. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry. C118807 Newborn or Infant Finding C89506 Newborn Screening Terminology C81308 Galactose Measurement Galactose Measurement The measurement of the amount of galactose in a biologic specimen. C49286 Hematology Test C89506 Newborn Screening Terminology 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 C81310 Lasso-O Measuring Tape Lasso-O Measuring Tape A measuring tape frequently used to measure head circumference in newborns. A measuring tape frequently used to measure head circumference in newborns. It can measure any circumference to the nearest millimeter and is manufactured from paper-thin, non-stretch, non-shrink plastic. C62103 Device C89506 Newborn Screening Terminology C81311 Moro Reflex Moro Reflex An involuntary, primal response in the neonate to loud noise or the feeling of falling. The response is characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and involuntarily flexing the fingers and toes. An involuntary response in the neonate to the feeling of falling or a loud noise characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and flexion of the fingers and toes, that disappears by 4-6 months of age. C81181 Infant Reflex C89506 Newborn Screening Terminology C81312 Muscle Tone Score Muscle Tone Score A component of the Apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion. A component of the Apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion. C118807 Newborn or Infant Finding C89506 Newborn Screening Terminology 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 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 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 C81316 Physical Symmetry Physical Symmetry A physical attribute of visual balance and proportion between opposing structures. C25447 Characteristic C89506 Newborn Screening Terminology C81319 Reflex Irritability Score Reflex Irritability Score A component of the Apgar score, it is the numerical value assigned to the neonate's response to stimuli, such as a mild pinch. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry. A component of the Apgar score, it is the numerical value assigned to the neonate's response to tactile stimuli. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry. C118807 Newborn or Infant Finding C89506 Newborn Screening Terminology C81320 Rooting Reflex Rooting Reflex An involuntary, primal response in the neonate to search for the nipple when the cheek is touched. An involuntary response in the neonate to search for the nipple when the cheek is touched, that disappears by 3-4 months of age. C81181 Infant Reflex C89506 Newborn Screening Terminology C81321 Skin Color Score Skin Color Score A component of the Apgar score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = pale blue; 1 = pink body and pale blue extremities; 2 = pink body and extremities. A component of the Apgar score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = blue; 1 = pink body and blue extremities; 2 = pink body and extremities. C36281 Integumentary System Finding C89506 Newborn Screening Terminology 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 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 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 C81325 Transferase Deficiency Galactosemia Transferase Deficiency Galactosemia Transferase Deficient Galactosemia A disorder characterized by the body's inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase. C34816 Congenital Metabolic Disorder C89506 Newborn Screening Terminology C81326 Elevated Test Result Elevated Test Result A result of a test that is higher than a previous value or a normal range of values. C36292 Laboratory Test Result C89506 Newborn Screening Terminology C81328 Body Weight Body Weight The weight of a subject. C25447 Characteristic C89506 Newborn Screening Terminology 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 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 C84669 Dextrocardia Dextrocardia A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. C95834 Congenital Heart Disease C89506 Newborn Screening Terminology C84687 Encephalocele Encephalocele A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. C84923 Neural Tube Defect C89506 Newborn Screening Terminology C84749 Newborn Examination Newborn Examination A general assessment of the overall health of a newborn. A general assessment of the overall health of a newborn. C90341 Pediatric Intervention or Procedure C89506 Newborn Screening Terminology 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 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 C85021 Preeclampsia Preeclampsia A systolic blood pressure of 140 mmHg or higher, or a diastolic blood pressure of 90 mmHg or higher on two occasions at least 4 hours apart (or greater than or equal to 160/110 mmHg within a short interval) after 20 weeks of gestation in a woman with previously normal blood pressure. It may present with proteinuria but if not, it may be associated with thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema, or new-onset cerebral or visual disturbances. A systolic blood pressure of 140 mmHg or higher, or a diastolic blood pressure of 90 mmHg or higher on two occasions at least 4 hours apart (or greater than or equal to 160/110 mmHg within a short interval) after 20 weeks of gestation in a woman with previously normal blood pressure. It may present with proteinuria but if not, it may be associated with thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema, or new-onset cerebral or visual disturbances. C4371 Gestational Hypertension C89506 Newborn Screening Terminology C85189 Thyroglossal Duct Cyst Thyroglossal Duct Cyst A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. C2978 Cyst C89506 Newborn Screening Terminology C87065 Cyanotic Body Cyanotic Body Blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body. C26737 Cyanosis C89506 Newborn Screening Terminology C87066 Cyanotic Limbs Cyanotic Limbs Blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs. C26737 Cyanosis C89506 Newborn Screening Terminology C87067 Caput Succedaneum Caput Succedaneum A diffuse swelling of the scalp in a newborn, usually caused by the trauma of the scalp pushing through a narrowed cervix during birth. The swelling may extend across the midline of the scalp and may exhibit discoloration or bruising. A diffuse swelling of the scalp in a newborn, usually caused by the trauma of the scalp pushing through a narrowed cervix during birth. The swelling may extend across the midline of the scalp and may exhibit discoloration or bruising. C81236 Birth Complication C89506 Newborn Screening Terminology C87068 Male Circumcision Male Circumcision Circumcision Surgical removal of the penile foreskin. Surgical removal of the penile foreskin. C15329 Surgical Procedure C89506 Newborn Screening Terminology 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 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 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 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 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 C87074 Eye Prophylaxis Eye Prophylaxis The practice of placing antibiotic eye drops or ointment in a neonate's eyes after birth. C49236 Therapeutic Procedure C89506 Newborn Screening Terminology C87076 Frenulum Frenulum A small fold of tissue that limits the movements of an organ or body part; for example, the lingual frenulum connects the tongue to the floor of the mouth and restrains its movement. C32221 Body Part C89506 Newborn Screening Terminology 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 C87079 General Appearance General Appearance The result of observation and overall assessment of a subject's outward aspect including appearance and movements; for example, in a human newborn general appearance includes skin color and tone, range of motion, and spontaneous movements. C25447 Characteristic C89506 Newborn Screening Terminology C87081 Heart Rhythm Heart Rhythm The recurrent, measured movements (rhythm) of a beating heart. C35552 Cardiovascular System Finding C89506 Newborn Screening Terminology C87083 Heterotaxy Heterotaxy Heterotaxia The abnormal arrangement or position of thoracic and/or abdominal organs in relation to each other, often occurring in a right/left transposition. C97151 Congenital Systemic Disorder C89506 Newborn Screening Terminology C87084 Hyperemesis Gravidarum Hyperemesis Gravidarum Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances. Severe, intractable vomiting during early pregnancy accompanied by hypovolemia, weight loss, and electrolyte imbalances. C34941 Pregnancy Complication C89506 Newborn Screening Terminology 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 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 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 C87090 Labial Fusion Labial Fusion Usually found in girls between 6 months and 6 years of age, this condition occurs wherein the labia grow together instead of as 2 separate folds, thereby blocking the opening of the vagina. It is caused by conditions such as repeated diaper rash, urine and stool infections, and sexual abuse. The condition often spontaneously corrects or responds to the application of estrogen cream. C27020 Female Reproductive System Disorder C89506 Newborn Screening Terminology 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 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 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 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 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 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 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 C87103 Newborn Heart Rate Newborn Heart Rate The number of heartbeats of the newborn per minute; the normal range is 100 - 180 heartbeats per minute. C49677 Heart Rate C89506 Newborn Screening Terminology C87104 Newborn Respiratory Rate Newborn Respiratory Rate The number of inhalations and exhalations of the newborn per minute; the normal range is 30 - 60 breaths per minute. C49678 Respiratory Rate C89506 Newborn Screening Terminology C87105 Newborn Blood Pressure Newborn Blood Pressure The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. C118807 Newborn or Infant Finding C89506 Newborn Screening Terminology 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 C87108 Pupils Equal Round and Reactive to Light and Accommodation Pupils Equal Round and Reactive to Light and Accommodation Pupils Equal Round and Reactive to Light and Accommodation Result While performing an assessment of the eyes, the examiner notes whether the pupils are equal and round, reactive to light, and have the ability to accommodate. If all findings are normal, the abbreviation PERRLA is noted in the examiner's account of the physical examination. C36280 Nervous System Finding C89506 Newborn Screening Terminology C87110 Polydactyly Polydactyly A congenital abnormality characterized by more than 5 digits on a hand or foot. C89337 Congenital Musculoskeletal Defect C89506 Newborn Screening Terminology 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 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 C87114 Proptosis Proptosis Abnormal protrusion of one or both eyes from the socket; causes include hyperthyroidism (particularly Graves disease); bleeding behind the eye; infection, inflammation, or tumors of the orbit; and vascular disorders. C99208 Eye Finding C89506 Newborn Screening Terminology 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 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 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 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 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 C87125 Syndactyly Syndactyly A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. C89337 Congenital Musculoskeletal Defect C89506 Newborn Screening Terminology C87126 Umbilical Cord Prolapse Umbilical Cord Prolapse Prolapsed Cord A situation in which the umbilical cord is ahead of the presenting fetal part. If the cord becomes compressed it may cut off the flow of blood to the baby. Passage of the umbilical cord through the cervix before the fetus during delivery. C81236 Birth Complication C89506 Newborn Screening Terminology C87127 Vasa Previa Vasa Previa Umbilical blood vessels that have inserted into the amniotic membrane (membranous insertion) that in turn are above or adjacent to the cervical os and are at risk of rupture. Umbilical blood vessels that have inserted into the amniotic membrane (membranous insertion) that in turn are above or adjacent to the cervical os and are at risk of rupture. C81236 Birth Complication C89506 Newborn Screening Terminology 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 C87129 Weak Breathing Weak Breathing Shallow inhalations and exhalations that indicate respiratory distress. C100104 Sign or Symptom C89506 Newborn Screening Terminology 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 C87167 Eclampsia Eclampsia A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. C35169 Pregnancy Disorder C89506 Newborn Screening Terminology 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 Infection C89506 Newborn Screening Terminology 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 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 C89328 Pediatric Disorder Pediatric Disorder Pediatric Disease or Disorder A non-neoplastic or neoplastic disorder which occurs during infancy, childhood, or adolescence. C2991 Disease or Disorder C89506 Newborn Screening Terminology C89333 Term Infant Term Infant Full Term Neonate An age group comprised of infants greater than or equal to 37 weeks, 0 days and less than or equal to 41 weeks, 6 days gestational age. A newborn infant greater than or equal to 37 weeks, 0 days and less than or equal to 41 weeks, 6 days gestational age. C16731 Newborn C89506 Newborn Screening Terminology 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 C89339 Neurological Screening Neurological Screening A specific type of neurologic examination for early detection of disease(s) and/or disorder(s). C81313 Neurologic Examination C89506 Newborn Screening Terminology C89343 Finnegan Score Measurement Finnegan Score Measurement A tool to evaluate neonatal abstinence syndrome (NAS), that measures the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse. A specific type of neonatal abstinence syndrome assessment used for the purposes of diagnosis and guidance of therapy. C89515 Neonatal Abstinence Syndrome Assessment C89506 Newborn Screening Terminology C89512 Barlow's Maneuver Barlow's Maneuver Useful in assessing for developmental dysplasia of the hip, this test is performed when the thigh is pushed posteriorly and the hip is adducted. Should the hip become dislocated by this movement, the result is considered positive. A physical examination performed on infants to screen for developmental dysplasia of the hip that attempts to displace the femoral head posteriolaterally from within the acetabulum. C84749 Newborn Examination C89506 Newborn Screening Terminology C89513 Heel to Ear Measurement Heel to Ear Measurement Useful in assessing neonatal neuromuscular development, this is obtained when the infant is placed in a supine position and the infant's feet are grasped pulled toward the ipsilateral ears. The examiner measures the angle made by the arc from the table to the infant's heels; increased angle for age suggests hypotonia, and decreased angle for age suggests hypertonia. A test of neuromuscular maturity, which measures knee 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 C89514 Palmar Crease Examination Palmar Crease Examination Inspection of palm crease When examining the infant's palm for abnormalities, the examiner may note a single transverse palmar crease, which 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. C84749 Newborn Examination C89506 Newborn Screening Terminology C89515 Neonatal Abstinence Syndrome Assessment Neonatal Abstinence Syndrome Assessment The measurement of the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse; the score can be used to determine subsequent treatment of the infant. An assessment to measure the constellation of features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. C84749 Newborn Examination C89506 Newborn Screening Terminology C89516 Neuromuscular Maturity Assessment Neuromuscular Maturity Assessment A neuromuscular examination of a newborn's developmental characteristics. A neuromuscular examination of a newborn's developmental characteristics to confirm or assign gestational age. C84749 Newborn Examination C89506 Newborn Screening Terminology C89517 Ortolani Maneuver Ortolani Maneuver When testing for congenital dislocation of the hip, this is the result obtained when the examiner gently abducts the hip while pushing upward on the greater trochanter. If the hip is dislocated, it will relocate with an audible clunk, which is a positive result for this test. A physical examination performed on infants to screen for developmental dysplasia of the hip that attempts to relocate a posteriorly displaced femoral head anteriorly into the acetabulum. C84749 Newborn Examination C89506 Newborn Screening Terminology C89518 Physical Maturity Assessment Physical Maturity Assessment A physical examination of a newborn's developmental characteristics. A physical examination of a newborn's developmental characteristics to confirm or assign gestational age. C84749 Newborn Examination C89506 Newborn Screening Terminology C89519 Popliteal Angle Measurement Popliteal Angle Measurement An examination whereby the patient is placed supine, the hip is flexed 90 degrees, and the knee is extended until firm resistance is met. The popliteal angle is the angle from the tibia to the femur. This measurement is used to assess hamstring contracture in children with cerebral palsy. A test of neuromuscular maturity, which measures leg 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 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 C89521 Scarf Sign Scarf Sign When testing the newborn infant for neuromuscular maturity, the "scarf sign" test is carried out by drawing the newborn's arm across the chest to the opposite shoulder until resistance is felt. In term infants, the elbow should not cross the midline of the chest. A test of neuromuscular maturity, which measures resistance to shoulder adduction, 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 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 C90492 Personal Information Personal Information Data, facts or figures about an individual; the set of relevant items would depend on the use case. C20189 Property or Attribute C89506 Newborn Screening Terminology C90496 Arm Recoil Test Arm Recoil Test Arm Recoil Measurement A test commonly administered to assess the physiologic response to extending the arms as straight as possible alongside the body when lying down. C84749 Newborn Examination C89506 Newborn Screening Terminology 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 C90498 Risk Factor Assessment Risk Factor Assessment A systematic gathering of information regarding the variables associated with an individual's increased risk of disease or infection. C25214 Evaluation Procedure C89506 Newborn Screening Terminology C90603 Medication Administered at Birth Medication Administered at Birth Medication Given at Birth Pharmacologic agents administered to a neonate at birth. C49236 Therapeutic Procedure C89506 Newborn Screening Terminology C943 Vitamin K Vitamin K The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins. C1909 Pharmacologic Substance C89506 Newborn Screening Terminology 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