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. This guideline revises and updates the 2013 Newborn Hearing Screening Programme (NHSP) in England document 'Newborn Hearing Screening and Assessment: Guidelines for the Assessment and Management of Auditory Neuropathy Spectrum Disorder in Young Infants. 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. The ANSD pattern is commonly composed of abnormal results from tests assessing the function of the vestibulocochlear nerve and normal findings from tests, which. For more information, visit the National Institute of Deafness and Other Communication Disorders. Auditory neuropathy (AN) or auditory neuropathy spectrum disorder (ANSD) is a term that describes a condition consisting of a distinct collection of auditory abnormalities. Orphanet is an online database of rare diseases and orphan drugs. Auditory Neuropathy Spectrum Disorder Hearing loss that occurs when sound enters the ear normally, but because of damage to the inner ear or the hearing nerve, sound isn’t organized in a way that the brain can understand. A CI consists of two components: an internal (implanted. It effectively bypasses damaged inner ear hair cells to deliver a signal to the brain, which is then interpreted as sound. Reference: Access aggregated data from Orphanet at Orphadata. A cochlear implant (CI) is a surgically implanted, electronic prosthetic device that provides electric stimulation directly to auditory nerve fibers in the cochlea. Reference: UMLS Vocabulary Standards and Mappings Downloadsĭata from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more. The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories.
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