27503000: Gilbert-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Gilbert's syndrome

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Gilbert's syndrome

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Gilbert's syndrome
\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Inherited disorder of bilirubin metabolism\Gilbert's syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gilbert's syndrome	Is a	Hyperbilirubinemia	false	Inferred relationship	Some
Gilbert's syndrome	Is a	Inherited disorder of bilirubin metabolism	true	Inferred relationship	Some
Gilbert's syndrome	Is a	Congenital anomaly of liver	false	Inferred relationship	Some
Gilbert's syndrome	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Gilbert's syndrome	Finding site	Digestive organ structure	false	Inferred relationship	Some	1
Gilbert's syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Gilbert's syndrome	Finding site	Liver structure	false	Inferred relationship	Some
Gilbert's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Gilbert's syndrome	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dubin-Johnson syndrome	Is a	False	Gilbert's syndrome	Inferred relationship	Some
Neonatal jaundice due to Gilbert's syndrome (finding)	Associated with	False	Gilbert's syndrome	Inferred relationship	Some	1
Neonatal jaundice due to Gilbert's syndrome (finding)	Due to	True	Gilbert's syndrome	Inferred relationship	Some	2

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
46000010	Gilbert's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
46001014	Gilbert-Lereboullet syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
46002019	Familial nonhemolytic bilirubinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46003012	Chronic intermittent juvenile jaundice	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46004018	Constitutional hepatic dysfunction	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46005017	Cholemia familiaris simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46006016	Familial nonhemolytic jaundice	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46007013	Gilbert's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
46008015	Hereditary nonhemolytic jaundice	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46009011	Benign unconjugated bilirubinemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46010018	Meulengracht syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
46011019	Low-grade chronic hyperbilirubinemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46012014	Congenital familial cholemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483557015	Benign unconjugated bilirubinaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483558013	Congenital familial cholaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483559017	Cholaemia familiaris simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483560010	Gilbert syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
483561014	Familial nonhaemolytic bilirubinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483562019	Hereditary nonhaemolytic jaundice	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483563012	Familial nonhaemolytic jaundice	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483564018	Low-grade chronic hyperbilirubinaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758078013	Gilbert's syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2920595018	Gilberts syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
86201000146110	syndroom van Gilbert	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1849391000146114	Gilbert-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1849401000146112	Gilbert-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10219551000146117	Erfelijke, onschuldige vorm van geelzucht, veroorzaakt door een minder goede werking van bepaalde enzymen in de lever waardoor er een verhoogde concentratie van bilirubine (een afbraakproduct van rode bloedcellen) in het bloed ontstaat.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)