{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T14:55:51Z","timestamp":1781189751973,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T00:00:00Z","timestamp":1561334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arthrogryposis multiplex congenita (AMC) encompasses many different conditions, involves many different genes and thus can be very complex. Using historical disease coding systems to document syndrome diagnoses and anomalies associated with AMC is often challenging. However, disease coding systems are necessary to provide opportunities for a standard language to be maintained and pertinent data to be identified in the pediatric AMC registry, congenital anomalies surveillance systems, and routine or administrative health information systems. The ICD\u201010, Orphanet, Online Mendelian Inheritance in Man, and the Human Phenotype Ontology coding and classification systems are described to establish a comprehensive coding strategy. This strategy will provide a necessary tool to contribute to a better understanding of AMC and ultimately improve the health of individuals with AMC.<\/jats:p>","DOI":"10.1002\/ajmg.c.31718","type":"journal-article","created":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T10:04:26Z","timestamp":1561370666000},"page":"304-309","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Disease coding systems for arthrogryposis multiplex congenita"],"prefix":"10.1002","volume":"181","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5496-5084","authenticated-orcid":false,"given":"Tanya","family":"Bedard","sequence":"first","affiliation":[{"name":"Alberta Congenital Anomalies Surveillance System, Clinical Genetics Alberta Health Services  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Brian","family":"Lowry","sequence":"additional","affiliation":[{"name":"Alberta Congenital Anomalies Surveillance System, Clinical Genetics Alberta Health Services  Calgary Alberta Canada"},{"name":"Department of Pediatrics University of Calgary and Alberta Children's Hospital  Calgary Alberta Canada"},{"name":"Department of Medical Genetics University of Calgary and Alberta Children's Hospital  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute, University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0251-8"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31721"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31724"},{"key":"e_1_2_4_5_1","unstructured":"European Commission Expert Group on Rare Diseases. (2014). Recommendation on ways to improve codification for rare diseases in health information systems: Adopted at the 3rd meeting of the Commission Expert Group on Rare Diseases November 12\u201313 2014. Retrieved fromhttps:\/\/ec.europa.eu\/health\/\/sites\/health\/files\/rare_diseases\/docs\/recommendation_coding_cegrd_en.pdf"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1039"},{"key":"e_1_2_4_7_1","first-page":"53","article-title":"Comparison of existing classifications for coding congenital malformation and genetic syndromes","volume":"13","author":"Lowry R. B.","year":"1977","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20738"},{"key":"e_1_2_4_9_1","unstructured":"OMIM Online Inheritance in Man: An online catalog of human genes and genetic disorders. (2019). Retrieved fromhttps:\/\/www.omim.org\/"},{"key":"e_1_2_4_10_1","unstructured":"Orphanet. (2014 September).ICD\u201010 coding rules for rare diseases. Orphanet procedural document. Reports collection. Retrieved fromhttp:\/\/www.orpha.net\/orphacom\/cahiers\/docs\/GB\/ICDcodingRulesProcedure.pdf"},{"key":"e_1_2_4_11_1","unstructured":"Orphanet. (2019 February 07).Freeman\u2013Sheldon syndrome. 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