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

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\Crigler-Najjar syndrome, type I

\Digestive system finding (finding)\constatation à propos du foie\affection du foie\Crigler-Najjar syndrome, type I
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Crigler-Najjar syndrome, type I
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\Crigler-Najjar syndrome, type I

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Crigler-Najjar syndrome, type I
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\Crigler-Najjar syndrome, type I
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\affection du foie\Crigler-Najjar syndrome, type I
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Crigler-Najjar syndrome, type I

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Crigler-Najjar syndrome, type I
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\syndrome de Crigler-Najjar (trouble)\Crigler-Najjar syndrome, type I
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Crigler-Najjar syndrome, type I
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\syndrome de Crigler-Najjar (trouble)\Crigler-Najjar syndrome, type I
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Crigler-Najjar syndrome, type I
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Crigler-Najjar syndrome, type I
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\Crigler-Najjar syndrome, type I
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Crigler-Najjar syndrome, type I
\Disease\trouble métabolique\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\syndrome de Crigler-Najjar (trouble)\Crigler-Najjar syndrome, type I
\Disease\trouble métabolique\Enzymopathy\syndrome de Crigler-Najjar (trouble)\Crigler-Najjar syndrome, type I
\Disease\trouble métabolique\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\hyperbilirubinémie\syndrome de Crigler-Najjar (trouble)\Crigler-Najjar syndrome, type I
\Disease\trouble métabolique\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Inherited disorder of bilirubin metabolism\syndrome de Crigler-Najjar (trouble)\Crigler-Najjar syndrome, type I
\Disease\Congenital disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\syndrome de Crigler-Najjar (trouble)\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	est un(e) (attribut)	porphyrie hépatique (trouble)	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	est un(e) (attribut)	Digestive system hereditary disorder	true	Inferred relationship	Some
Crigler-Najjar syndrome, type I	est un(e) (attribut)	affection du foie	true	Inferred relationship	Some
Crigler-Najjar syndrome, type I	est un(e) (attribut)	syndrome de Crigler-Najjar (trouble)	true	Inferred relationship	Some
Crigler-Najjar syndrome, type I	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Crigler-Najjar syndrome, type I	est un(e) (attribut)	Digestive system hereditary disorder	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	est un(e) (attribut)	Congenital anomaly of trunk	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	est un(e) (attribut)	Congenital anomaly of digestive system	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	est un(e) (attribut)	Hyperbilirubinemia (disorder)	false	Inferred relationship	Some
Crigler-Najjar syndrome, type I	localisation d'une constatation (attribut)	foie	true	Inferred relationship	Some	2
Crigler-Najjar syndrome, type I	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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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
391501000241119	syndrome de Crigler-Najjar type 1 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
896791000172117	déficit en UGT type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
984761000172112	syndrome de Crigler-Najjar type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)