SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/763891005
http://purl.bioontology.org/ontology/SNOMEDCT/763891005
Preferred Name

Renal hepatic pancreatic dysplasia

Definitions
A rare genetic developmental defect during embryogenesis syndrome with the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.
Synonyms
Renal hepatic pancreatic dysplasia (disorder)
Ivemark II syndrome
Renohepaticopancreatic dysplasia
Type http://www.w3.org/2002/07/owl#Class
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