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

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary fructose intolerance

\Metabolic disease\Enzymopathy\Hereditary fructose intolerance
\Metabolic disease\Disorder of carbohydrate metabolism\Fructose metabolism disorder\Fructosuria\Hereditary fructose intolerance

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
2646446018 ALDB - aldolase B deficiency en Synonym Active Case sensitive SNOMED CT core
33746011 Hereditary fructosuria en Synonym Active Case insensitive SNOMED CT core
33747019 Fructose-1-phosphate aldolase deficiency en Synonym Active Case insensitive SNOMED CT core
33748012 Hereditary fructose intolerance en Synonym Active Case insensitive SNOMED CT core
33749016 Fructose-biphosphate aldolase B deficiency en Synonym Active Initial character case insensitive SNOMED CT core
33750016 ALDB deficiency en Synonym Active Case sensitive SNOMED CT core
33751017 Aldolase B deficiency en Synonym Active Initial character case insensitive SNOMED CT core
4192171000168115 HFI - Hereditary fructose intolerance en Synonym Active Case sensitive SNOMED Clinical Terms Australian extension
480276016 Fructosaemia en Synonym Active Case insensitive SNOMED CT core
480277013 ALDB - aldolose B deficiency en Synonym Inactive Case sensitive SNOMED CT core
480278015 Fructose-1,6-bisphosphate aldolase B deficiency en Synonym Active Initial character case insensitive SNOMED CT core
480279011 Fructose intolerance en Synonym Inactive Case insensitive SNOMED Clinical Terms Australian extension
480280014 Fructosemia en Synonym Active Case insensitive SNOMED CT core
748842010 Hereditary fructosuria (disorder) en Fully specified name Inactive Initial character case insensitive SNOMED CT core

Expanded Value Set

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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1186813010	Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
2646446018	ALDB - aldolase B deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
33746011	Hereditary fructosuria	en	Synonym	Active	Case insensitive	SNOMED CT core
33747019	Fructose-1-phosphate aldolase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
33748012	Hereditary fructose intolerance	en	Synonym	Active	Case insensitive	SNOMED CT core
33749016	Fructose-biphosphate aldolase B deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
33750016	ALDB deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
33751017	Aldolase B deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4192171000168115	HFI - Hereditary fructose intolerance	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
480276016	Fructosaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
480277013	ALDB - aldolose B deficiency	en	Synonym	Inactive	Case sensitive	SNOMED CT core
480278015	Fructose-1,6-bisphosphate aldolase B deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
480279011	Fructose intolerance	en	Synonym	Inactive	Case insensitive	SNOMED Clinical Terms Australian extension
480280014	Fructosemia	en	Synonym	Active	Case insensitive	SNOMED CT core
748842010	Hereditary fructosuria (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core