80006005: Disorder of bilirubin metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism

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

Descriptions:

Id Description Lang Type Status Case? Module

132735017 Disorder of bilirubin metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

821119016 Disorder of bilirubin metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3036822010 Bilirubin metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2010231000005113 bilirubinstofskifteforstyrrelse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of bilirubin metabolism	Is a	Metabolic disease	false	Inferred relationship	Some
Disorder of bilirubin metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of bilirubin metabolism	Is a	Disorder of porphyrin metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hyperbilirubinemia	Is a	True	Disorder of bilirubin metabolism	Inferred relationship	Some
Bilirubinuria	Is a	True	Disorder of bilirubin metabolism	Inferred relationship	Some
Inherited disorder of bilirubin metabolism	Is a	True	Disorder of bilirubin metabolism	Inferred relationship	Some
Hepatocellular jaundice	Is a	True	Disorder of bilirubin metabolism	Inferred relationship	Some
Unconjugated hyperbilirubinemia	Is a	False	Disorder of bilirubin metabolism	Inferred relationship	Some
Conjugated hyperbilirubinemia	Is a	False	Disorder of bilirubin metabolism	Inferred relationship	Some
nordamerikansk indiansk intrahepatisk kolestase	Is a	False	Disorder of bilirubin metabolism	Inferred relationship	Some
Disorders of bilirubin excretion	Is a	True	Disorder of bilirubin metabolism	Inferred relationship	Some
Delayed conjugation of bilirubin (disorder)	Is a	True	Disorder of bilirubin metabolism	Inferred relationship	Some
A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice.	Is a	True	Disorder of bilirubin metabolism	Inferred relationship	Some

This concept is not in any reference sets