28259009: Crigler-Najjar syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome

\Autosomal hereditary disorder\Crigler-Najjar syndrome

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome
\Metabolic disease\Enzymopathy\Crigler-Najjar syndrome
\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Hyperbilirubinemia\Crigler-Najjar syndrome
\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome

\Congenital disease (disorder)\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Crigler-Najjar syndrome

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

47299017 Crigler-Najjar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

758918016 Crigler-Najjar syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

891661000172112 syndrome de Crigler-Najjar fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

920151000172111 déficit en UGT (uridinediphosphate glucuronosyltransferase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

889951000172117 bilirubine-UGT (uridinediphosphate glucuronosyltransferase)-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

932051000172110 syndroom van Crigler-Najjar nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Crigler-Najjar syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Crigler-Najjar syndrome	Is a	Inherited disorder of bilirubin metabolism	true	Inferred relationship	Some
Crigler-Najjar syndrome	Is a	Hyperbilirubinemia	true	Inferred relationship	Some
Crigler-Najjar syndrome	Is a	Enzymopathy	true	Inferred relationship	Some
Crigler-Najjar syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Crigler-Najjar syndrome	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Crigler-Najjar syndrome, type II	Is a	True	Crigler-Najjar syndrome	Inferred relationship	Some
Crigler-Najjar syndrome, type I	Is a	True	Crigler-Najjar syndrome	Inferred relationship	Some
Neonatal jaundice with Crigler-Najjar syndrome	Associated with	False	Crigler-Najjar syndrome	Inferred relationship	Some	1
Neonatal jaundice with Crigler-Najjar syndrome	Due to	True	Crigler-Najjar syndrome	Inferred relationship	Some	1

This concept is not in any reference sets