190745006: Galactosemia (disorder)

SNOMED CT Concept\constatation clinique\Disease\trouble métabolique\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia

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

293192017 Galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293193010 Galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

523911000241118 galactosémie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

574365010 Galactosemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

802131000241112 galactosémie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

911791000172119 galactosémie 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
Galactosaemia	est un(e) (attribut)	Disorder of galactose metabolism	true	Inferred relationship	Some
Galactosaemia	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of galactose mutarotase	est un(e) (attribut)	True	Galactosaemia	Inferred relationship	Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	est un(e) (attribut)	False	Galactosaemia	Inferred relationship	Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	est un(e) (attribut)	False	Galactosaemia	Inferred relationship	Some
galactosémie avec ictère fœtale	Due to	True	Galactosaemia	Inferred relationship	Some	1
UDPglucose-4-epimerase deficiency	est un(e) (attribut)	True	Galactosaemia	Inferred relationship	Some
Other specified galactosemia	est un(e) (attribut)	False	Galactosaemia	Inferred relationship	Some
Galactosemia NOS	est un(e) (attribut)	False	Galactosaemia	Inferred relationship	Some
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	est un(e) (attribut)	True	Galactosaemia	Inferred relationship	Some
Family history of galactosemia	constatation associée (attribut)	True	Galactosaemia	Inferred relationship	Some	1
Galactosaemia screening	a pour objet (attribut)	True	Galactosaemia	Inferred relationship	Some	2

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)