5655007: hereditaire aandoening van bilirubinemetabolisme (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism
\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Inherited 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

10430013 Inherited disorder of bilirubin metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

795075017 Inherited disorder of bilirubin metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6046181000146119 erfelijke aandoening van bilirubinemetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7043541000146114 hereditaire aandoening van bilirubinemetabolisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7043551000146112 hereditaire aandoening van bilirubinemetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited disorder of bilirubin metabolism	Is a	Disorder of bilirubin metabolism	true	Inferred relationship	Some
Inherited disorder of bilirubin metabolism	Is a	Disorder of bilirubin metabolism and excretion	false	Inferred relationship	Some
Inherited disorder of bilirubin metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Inherited disorder of bilirubin metabolism	Occurrence	Congenital	true	Inferred relationship	Some	1
Inherited disorder of bilirubin metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gilbert's syndrome	Is a	True	Inherited disorder of bilirubin metabolism	Inferred relationship	Some
Crigler-Najjar syndrome	Is a	True	Inherited disorder of bilirubin metabolism	Inferred relationship	Some
Rotor syndrome	Is a	True	Inherited disorder of bilirubin metabolism	Inferred relationship	Some
Dubin-Johnson syndrome	Is a	True	Inherited disorder of bilirubin metabolism	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	True	Inherited disorder of bilirubin metabolism	Inferred relationship	Some
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)	Is a	True	Inherited disorder of bilirubin metabolism	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set