bellingham pellucid marginal degeneration

Department of Health and Human Services, Office of Disease Prevention and Health Promotion. Washington, DC: The National Academies Press. Figure 1a: OD These slitlamp photographs demonstrate the corneal protrusion above the area of. This is in contrast to keratoconus where maximal thinning occurs at the apex of the protrusion. National Academies of Sciences, Engineering, and Medicine. Pellucid marginal degeneration is a bilateral corneal ectasia that results in inferior corneal thinning with a corneal protrusion above the thinnest area. 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. Orphanet is an online database of rare diseases and orphan drugs. Reference: Access aggregated data from Orphanet at Orphadata.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.

Bellingham pellucid marginal degeneration