20052008: intolérance héréditaire au fructose (trouble)

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

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fructose-1,6-bisphosphate aldolase B deficiency (disorder)

\trouble métabolique\Enzymopathy\Fructose-1,6-bisphosphate aldolase B deficiency (disorder)
\trouble métabolique\Disorder of carbohydrate metabolism\Fructose metabolism disorder (disorder)\Fructosuria\Fructose-1,6-bisphosphate aldolase B deficiency (disorder)

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

1186813010 Fructose-1,6-bisphosphate aldolase B deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2646446018 ALDB - aldolase B deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

33746011 Hereditary fructosuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

33747019 Fructose-1-phosphate aldolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

33748012 Hereditary fructose intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

33749016 Fructose-biphosphate aldolase B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

33750016 ALDB deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

33751017 Aldolase B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

403651000241113 intolérance héréditaire au fructose (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

480276016 Fructosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

480278015 Fructose-1,6-bisphosphate aldolase B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

480279011 Fructose intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

480280014 Fructosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

50004401000188111 intolérance héréditaire au fructose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

50004451000188110 fructosémie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

50004501000188112 intolérance au fructose 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
Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	est un(e) (attribut)	Hereditary disorder by system	false	Inferred relationship	Some
Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	est un(e) (attribut)	Fructosuria	true	Inferred relationship	Some
Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hepatic fructokinase deficiency (disorder)	est un(e) (attribut)	False	Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	Inferred relationship	Some

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)