771441005: Hyperbiliverdinemia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Digestive system finding (finding)\Liver finding\Disease of liver\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Biliverdin above reference range\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Measurement finding outside reference range\Measurement finding above reference range\Biliverdin above reference range\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706208012	A rare genetic hepatic disease characterised by the presence of green colouration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706209016	A rare genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706210014	Hyperbiliverdinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706211013	Hyperbiliverdinemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706212018	Hyperbiliverdinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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