54627004: Hereditary xanthinuria (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\xanthinurie héréditaire (trouble)

\trouble métabolique\Disorder of purine and pyrimidine metabolism\troubles du métabolisme des purines\xanthinurie héréditaire (trouble)
\trouble métabolique\Enzymopathy\xanthinurie héréditaire (trouble)

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

441301000241114 xanthinurie héréditaire (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
792879017 Hereditary xanthinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
869601000172113 xanthinurie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
90786016 Hereditary xanthinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
90787013 Hereditary xanthinuria, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
993391000172116 lithiase xanthique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
xanthinurie héréditaire (trouble)	est un(e) (attribut)	maladie héréditaire	true	Inferred relationship	Some
xanthinurie héréditaire (trouble)	est un(e) (attribut)	troubles du métabolisme des purines	true	Inferred relationship	Some
xanthinurie héréditaire (trouble)	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
xanthinurie héréditaire (trouble)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
xanthinurie héréditaire (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary xanthinuria type 1	est un(e) (attribut)	True	xanthinurie héréditaire (trouble)	Inferred relationship	Some
Combined molybdoflavoprotein enzyme deficiency	est un(e) (attribut)	True	xanthinurie héréditaire (trouble)	Inferred relationship	Some
Isolated xanthine oxidase deficiency	est un(e) (attribut)	True	xanthinurie héréditaire (trouble)	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set