Resumo

MARTINEZ CIRRE, M.C. et al. Patterns of rare congenital diseases in patients admitted to a regional hospital. Anales Sis San Navarra [online]. 2013, vol.36, n.2, pp.281-286. ISSN 1137-6627.  https://dx.doi.org/10.4321/S1137-66272013000200011.

Background. To describe the pattern of patients admitted due to rare diseases corresponding to congenital anomalies in a regional hospital. Methods. Retrospective transversal study. We considered hospital discharges for the years 2009-2012 with principal diagnosis between codes CIE 9R MC 740-759. The source of information was the Basic Minimum Data Set. Socio-demographic and clinical variables were analyzed. Results. One point six percent (1.6%) of the population was admitted to hospital due to rare congenital diseases. Fifty-eight point five percent (58.5%) were male, with average age 21.4 ± 21.5 years. The major diagnostic categories were: diseases of the nervous system (86.9%), circulatory systems diseases (51.7%) and musculoskeletal system diseases (50.3%). Eighteen percent (18%) of hospital admissions corresponded to patient readmissions. The service with the greatest number of episodes was Pediatric Surgery, 29%, followed by Neurosurgery, 20%. Conclusions. The pattern of rare congenital disease in the «Virgen de Nieves» University Hospital corresponds to a young patient, with a disease belonging to the diseases of the nervous system group of the major diagnostic categories, treated surgically, and with a low percentage of readmissions.

Palavras-chave : Rare disease; Congenital abnormalities; Set minimum basic of clinical data; Hospital care.

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