8933000: Crigler-Najjar syndrome, type I (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\Crigler-Najjar syndrome, type I

\Finding of trunk structure\Liver finding\Disease of liver\Crigler-Najjar syndrome, type I
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Crigler-Najjar syndrome, type I

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Crigler-Najjar syndrome, type I
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I
\Disease\Disorder of body system\Disease of liver\Crigler-Najjar syndrome, type I
\Disease\Disorder of trunk (disorder)\Disease of liver\Crigler-Najjar syndrome, type I
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I
\Disease\Metabolic disease\Disorder of bilirubin metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I
\Disease\Metabolic disease\Enzymopathy\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I

Status: current. Date: 31-Jan 2002

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Crigler-Najjar syndrome, type I	Is a	Disease of liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Crigler-Najjar syndrome, type I	Is a	Crigler-Najjar syndrome	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Crigler-Najjar syndrome, type I	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Crigler-Najjar syndrome, type I	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Crigler-Najjar syndrome, type I	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
15747010	Crigler-Najjar syndrome, type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
15748017	Deficiency of glucuronosyltransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
15749013	Glucuronyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
15750013	UDP glucuronyl transferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
508458016	Crigler-Najjar type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
508459012	Bilirubin UDP glucuronyl transferase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
508460019	Crigler-Najjar syndrome, NOS	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
508461015	Crigler-Najjar syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
508462010	Bilirubin glucuronosyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508463017	Crigler-Najjar syndrome type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
832201013	Crigler-Najjar syndrome, type I (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core