8933000: Crigler-Najjar-syndroom type 1 (aandoening)

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

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

\Digestive system finding (finding)\Liver finding\Disease of liver\Crigler-Najjar syndrome, type I
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Crigler-Najjar syndrome, type I
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Crigler-Najjar syndrome, type I
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Crigler-Najjar syndrome, type I

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Crigler-Najjar syndrome, type I
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Crigler-Najjar syndrome, type I
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Crigler-Najjar syndrome, type I
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\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\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Crigler-Najjar syndrome, type I
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Crigler-Najjar syndrome, type I
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Crigler-Najjar syndrome, type I
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Crigler-Najjar syndrome, type I
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Crigler-Najjar syndrome, type I
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\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\Enzymopathy\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Hyperbilirubinemia\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome\Crigler-Najjar syndrome, type I

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Crigler-Najjar syndrome, type I	Is a	Crigler-Najjar syndrome	true	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	Hyperbilirubinemia	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Finding site	Liver structure	true	Inferred relationship	Some	2
Crigler-Najjar syndrome, type I	Occurrence	Congenital	true	Inferred relationship	Some	1
Crigler-Najjar syndrome, type I	Is a	Hepatic porphyria	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	Disease of liver	true	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

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
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
338841000146118	syndroom van Crigler-Najjar type 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10663181000146119	Crigler-Najjar-syndroom type 1 (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10663191000146117	Crigler-Najjar-syndroom type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)