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biliary atresia with splenic malformation syndrome

^ http://purl.obolibrary.org/obo/MONDO_0016577

Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. [ Orphanet:244283 ]

Term info

database cross reference
  • Orphanet:244283 (MONDO:equivalentTo)
  • UMLS:C4274029 (MONDO:equivalentTo)
  • UMLS:CN201730 (MONDO:equivalentTo)
  • SCTID:717156002 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_244283, http://linkedlifedata.com/resource/umls/id/C4274029, http://identifiers.org/snomedct/717156002, http://linkedlifedata.com/resource/umls/id/CN201730

has exact synonym

BASM syndrome

id

MONDO:0016577