20052008: Fructose-1,6-bisphosphate aldolase B deficiency (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary fructosuria

\Metabolic disease\Enzymopathy\Hereditary fructosuria
\Metabolic disease\Disorder of carbohydrate metabolism\Fructose metabolism disorder (disorder)\Fructosuria\Hereditary fructosuria

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

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

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

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

3339931001000113 Fructose-1,6-Bisphosphat-Aldolase-B-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

50004401000188111 intolérance héréditaire au fructose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

50004451000188110 fructosémie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

50004501000188112 intolérance au fructose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary fructosuria	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Hereditary fructosuria	Is a	Fructosuria	true	Inferred relationship	Some
Hereditary fructosuria	Is a	Enzymopathy	true	Inferred relationship	Some
Hereditary fructosuria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hereditary fructosuria	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Essential benign fructosuria	Is a	False	Hereditary fructosuria	Inferred relationship	Some

This concept is not in any reference sets