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Gilbert Disease (disorder) (CUI C0017551) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017551

NCI Thesaurus Code: C84729  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.

GARD Definition: Gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. Gilbert syndrome typically doesn't require treatment or pose serious complications. In fact, Gilbert syndrome is usually not considered a disease because of its benign nature. Many individuals find out they have the disorder by accident, when they have a blood test that shows elevated bilirubin levels. More males than females have been diagnosed with Gilbert syndrome.  This condition is caused by mutations in the UGT1A1 gene and is inherited in an autosomal recessive pattern. - this information is from GARD/ORDR/NCATS.

MSH Definition: A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.

Synonyms & Abbreviations: (see Synonym Details)
Arias Type Hyperbilirubinemias
Arias Type Hyperbilirubinemia
Benign unconjugated bilirubinaemia syndrome
Benign unconjugated bilirubinemia syndrome
Cholaemia familiaris simplex
Cholemia familiaris simplex
Cholemia, familial
Chronic intermittent juvenile jaundice
Congenital familial cholaemia
Congenital familial cholemia
congenital nonhemolytic jaundice
Constitutional hepatic dysfunction
Constitutional hyperbilirubinemia
Constitutional Liver Dysfunction
Disease, Gilbert's
Disease, Gilbert
Familial nonhaemolytic bilirubinaemia
Familial nonhaemolytic jaundice
Familial nonhemolytic bilirubinemia
Familial Nonhemolytic Jaundice
Gilbert Disease (disorder)
Gilbert Disease [Disease/Finding]
Gilbert Disease
GILBERT DIS
GILBERT SYNDROME
GILBERT'S DISEASE
Gilbert's syndrome (disorder)
Gilbert's syndrome
GILBERT-LEREBOULLET SYNDROME
Gilberts Disease
GILBERTS DIS
Gilberts Syndrome
HBLRG
Hereditary nonhaemolytic jaundice
hereditary nonhemolytic jaundice
Hyperbilirubinemia 1s
Hyperbilirubinemia 1
Hyperbilirubinemia Arias type
Hyperbilirubinemia I
Hyperbilirubinemia type 1
Hyperbilirubinemia, Arias Type
HYPERBILIRUBINEMIA, CHRONIC UNCONJUGATED
HYPERBILIRUBINEMIA, FAMILIAL UNCONJUGATED
HYPERBILIRUBINEMIA, GILBERT TYPE
Hyperbilirubinemias, Arias Type
Jaundice, congenital nonhemolytic
Low-grade chronic hyperbilirubinaemia syndrome
Low-grade chronic hyperbilirubinemia syndrome
Meulengracht Syndrome
Syndrome, Gilbert's
Syndrome, Gilbert
Unconjugated Benign Bilirubinemia

External Source Codes: 
NCI Thesaurus Code C84729 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CTV3ID C3742 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1654-1020 CSP
DISEASE_IDENTIFIER_ID 18730 GARD
DISEASE_IDENTIFIER_ID 18731 GARD
DISEASE_IDENTIFIER_ID 18732 GARD
DISEASE_IDENTIFIER_ID 18733 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020731 SNOMEDCT_US
GENELOCUS ,2,q,3,7, OMIM
GENESYMBOL BILIQTL1 OMIM
GENESYMBOL GNT1 OMIM
GENESYMBOL UGT1A1 OMIM
GENESYMBOL UGT1 OMIM
HAS_GARD_PAGE true GARD
HN 2000(1975) MSH
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE false GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-10-28T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level. NDFRT
MESH_DUI D005878 NDFRT
MESH_NAME Gilbert Disease NDFRT
MESH_UI M0009229 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C16.320.565.300.528 MSH
MN C18.452.648.300.528 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001333 NDFRT
ORDER_NO 04708 ICD10CM
PM 2000; see GILBERT'S DISEASE 1991-1999, see HYPERBILIRUBINEMIA, HEREDITARY 1975-90 MSH
PRIMARY_PATH 10018267$10021603$10027424$10010331$Gilbert's syndrome$Inborn errors of bilirubin metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6177/congenital-nonhemolytic-jaundice/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6507/gilbert-syndrome/resources/1 GARD
RXAUI 3165416 RXNORM
RXAUI 3165417 RXNORM
RXAUI 3165418 RXNORM
RXAUI 3605846 RXNORM
RXAUI 3605847 RXNORM
RXAUI 3605892 RXNORM
RXAUI 3605895 RXNORM
RXAUI 5039466 RXNORM
RXAUI 5930621 RXNORM
RXAUI 5930919 RXNORM
RXAUI 5931036 RXNORM
RXAUI 5931609 RXNORM
RXAUI 5932401 RXNORM
RXCUI 1021841 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 27503000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E80.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E80.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E80.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E80.4 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3742 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T017775 MSH
TERMUI T017776 MSH
TERMUI T740550 MSH
TERMUI T768909 MSH
TERMUI T768910 MSH
TERMUI T770119 MSH
TERMUI T811558 MSH
TERMUI T841489 MSH
TERMUI T841490 MSH
TERMUI T841491 MSH
TERMUI T841492 MSH
TERMUI T841493 MSH
TH GHR (2014) MSH
TH NLM (1975) MSH
TH NLM (2011) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0017551

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