Biomaterial Database

Newborn screening from an international perspective--different countries, different approaches. 2011

Jeannette Klein

Newborn Screening Laboratory, Charité University Medicine Berlin, Germany. Electronic address: jeannette.klein@charite.de.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D010661	Phenylketonurias	A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).	Biopterin Deficiency,Dihydropteridine Reductase Deficiency Disease,Hyperphenylalaninemia, Non-Phenylketonuric,Phenylalanine Hydroxylase Deficiency Disease,BH4 Deficiency,DHPR Deficiency,Deficiency Disease, Dihydropteridine Reductase,Deficiency Disease, Phenylalanine Hydroxylase,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Dihydropteridine Reductase Deficiency,Folling Disease,Folling's Disease,HPABH4C,Hyperphenylalaninaemia,Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism,Hyperphenylalaninemia, BH4-Deficient, C,Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency,Non-Phenylketonuric Hyperphenylalaninemia,Oligophrenia Phenylpyruvica,PAH Deficiency,PKU, Atypical,Phenylalanine Hydroxylase Deficiency,Phenylalanine Hydroxylase Deficiency Disease, Severe,Phenylketonuria,Phenylketonuria I,Phenylketonuria II,Phenylketonuria Type 2,Phenylketonuria, Atypical,Phenylketonuria, Classical,QDPR Deficiency,Quinoid Dihydropteridine Reductase Deficiency,Tetrahydrobiopterin Deficiency,Atypical PKU,Atypical Phenylketonuria,Biopterin Deficiencies,Classical Phenylketonuria,Deficiency, BH4,Deficiency, Biopterin,Deficiency, DHPR,Deficiency, Dihydropteridine Reductase,Deficiency, PAH,Deficiency, Phenylalanine Hydroxylase,Deficiency, QDPR,Deficiency, Tetrahydrobiopterin,Disease, Folling,Disease, Folling's,Hyperphenylalaninemia, Non Phenylketonuric,Non Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias
D003409	Congenital Hypothyroidism	A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.	Cretinism,Myxedema, Congenital,Endemic Cretinism,Fetal Iodine Deficiency Disorder,Cretinism, Endemic,Hypothyroidism, Congenital
D003906	Developing Countries	Countries in the process of change with economic growth, that is, an increase in production, per capita consumption, and income. The process of economic growth involves better utilization of natural and human resources, which results in a change in the social, political, and economic structures.	LMICs,Less-Developed Countries,Low Income Countries,Low and Middle Income Countries,Lower-Middle-Income Country,Middle Income Countries,Third-World Countries,Under-Developed Countries,Developing Nations,Least Developed Countries,Less-Developed Nations,Third-World Nations,Under-Developed Nations,Countries, Middle Income,Countries, Third-World,Country, Least Developed,Country, Less-Developed,Country, Low Income,Country, Lower-Middle-Income,Country, Middle Income,Country, Third-World,Country, Under-Developed,Developed Country, Least,Developing Country,Developing Nation,Least Developed Country,Less Developed Countries,Less Developed Nations,Less-Developed Country,Less-Developed Nation,Low Income Country,Lower Middle Income Country,Lower-Middle-Income Countries,Middle Income Country,Nation, Less-Developed,Nation, Third-World,Nation, Under-Developed,Third World Countries,Third World Nations,Third-World Country,Third-World Nation,Under Developed Countries,Under Developed Nations,Under-Developed Country,Under-Developed Nation
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015997	Neonatal Screening	The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.	Infant, Newborn, Screening,Newborn Infant Screening,Newborn Screening,Neonatal Screenings,Newborn Infant Screenings,Newborn Screenings,Screening, Neonatal,Screening, Newborn,Screening, Newborn Infant,Screenings, Neonatal,Screenings, Newborn,Screenings, Newborn Infant
D019049	Developed Countries	Countries that have reached a level of economic achievement through an increase of production, per capita income and consumption, and utilization of natural and human resources.	Industrialized Countries,Developed Nations,Industrialized Nations,Countries, Developed,Countries, Industrialized,Country, Developed,Country, Industrialized,Developed Country,Developed Nation,Industrialized Country,Industrialized Nation,Nation, Developed,Nation, Industrialized,Nations, Developed,Nations, Industrialized
D038622	Internationality	The quality or state of relating to or affecting two or more nations. (After Merriam-Webster Collegiate Dictionary, 10th ed)	Globalization,International Aspects,International Perspectives,International Relations,Multinational Aspects,Multinational Perspectives,Aspect, International,Aspect, Multinational,Aspects, International,Aspects, Multinational,International Aspect,International Perspective,Multinational Aspect,Multinational Perspective,Perspective, International,Perspective, Multinational,Perspectives, International,Perspectives, Multinational,Relations, International