![]() ![]() Health Literacy Online: A Guide for Simplifying the User Experience. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. Washington, DC: The National Academies Press. National Academies of Sciences, Engineering, and Medicine. Improving newborn screening laboratory test ordering and result reporting using health information exchange. Reference: Data from the Newborn Screening Coding and Terminology Guide is available here.Reference: MedGen Data Downloads and FTPĭata from the National Library of Medicine's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing.Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217.ĭata from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease. Cri du Chat is caused by a missing piece on chromosome 5. This describes the cat-like cry that children with this syndrome typically make. ‘Cri du Chat’ is a French phrase that means ‘cry of the cat’. The size of the missing part varies, and people who have larger deletions. Cri du Chat syndrome (CdCS) is a genetic disorder that can cause health problems and intellectual disability. A small number of cases occur when a parent passes a different, rearranged form of the chromosome to their child. ![]() Most cases are believed to occur during the development of the egg or sperm. Orphanet is an online database of rare diseases and orphan drugs. Cri-du-chat syndrome is a rare syndrome in which part of chromosome 5 is missing. It is caused by a missing piece of chromosome 5. Reference: Access aggregated data from Orphanet at Orphadata. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. ![]()
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