Biliary atresia, extrahepatic

Preferred Label : Biliary atresia, extrahepatic;

Symbol : EHBA;

CISMeF acronym : EHBA;

Type : Phenotype or locus, molecular basis unknown;

Description : Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010). See also Alagille syndrome (118450), which includes biliary atresia as a feature.;

Inheritance : Multifactorial;

Laboratory abnormalities : Increased total bilirubin; Increased indirect bilirubin; Abnormal liver enzymes;

Prefixed ID : %210500;

Details

Origin ID

210500;

UMLS CUI

C4520983;

Automatic exact mappings (from CISMeF team)
- Biliary Atresia, Extrahepatic [MeSH concept]
- Biliary atresia [ICD-11 Sub-sub category]
- Extrahepatic biliary atresia [ICD-11 More detail]
- Extrahepatic biliary duct atresia [HPO term]
- Isolated biliary atresia [ORDO Disease]
- biliary atresia [MeSH Descriptor]
- biliary atresia [MeSH concept]
Broader ORDO disease(s)
- Isolated biliary atresia [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital atresia of extrahepatic bile duct (disorder) [SNOMED CT concept]
- Extrahepatic Biliary Atresia [NCIt concept]
- extrahepatic biliary atresia [Disease (Nov.)]
DO Cross reference
- biliary atresia [DO Concept]
HPO term(s)
- Abnormality of renal physiology [HPO term]
- Acholic stools [HPO term]
- Atretic gallbladder [HPO term]
- Bile duct proliferation [HPO term]
- Cirrhosis [HPO term]
- Elevated hepatic transaminase [HPO term]
- Extrahepatic biliary duct atresia [HPO term]
- Hepatomegaly [HPO term]
- Hyperbilirubinemia [HPO term]
- Increased total bilirubin [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Portal fibrosis [HPO term]
- Progressive [HPO term]
- Unconjugated hyperbilirubinemia [HPO term]
ORDO concept(s)
- Isolated biliary atresia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Atresia biliary [MedDRA LLT]
- Atresia of bile ducts [ICD-10 Sub-category]
- BILIARY ATRESIA [WHO-ART Preferred Term]
- Biliary Atresia [NCIt concept]
- Biliary atresia [MedDRA LLT]
- Biliary atresia [ICD-9 code]
- Biliary atresia [HPO term]
- Biliary atresia [PASCAL descriptor]
- Biliary atresia, congenital [MedDRA LLT]
- Congenital atresia of extrahepatic bile duct (disorder) [SNOMED CT concept]
- Congenital biliary atresia (disorder) [SNOMED CT concept]
- Extrahepatic Biliary Atresia [NCIt concept]
- Extrahepatic biliary duct atresia [HPO term]
- Isolated biliary atresia [ORDO Disease]
- biliary atresia [MeSH Descriptor]
- biliary atresia [MeSH concept]
- biliary atresia [DO Concept]
- biliary atresia [Disease (Nov.)]
- congenital atresia of extrahepatic bile duct [SNOMED Notion]
- congenital biliary atresia [SNOMED Notion]
- extrahepatic biliary atresia [Disease (Nov.)]

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