40278002: Hepatic fructokinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Essential benign fructosuria
• \Metabolic disease\Enzymopathy\Essential benign fructosuria
• \Metabolic disease\Disorder of carbohydrate metabolism\Fructose metabolism disorder\Fructosuria\Essential benign fructosuria

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1203040015	Hepatic fructokinase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
492519014	Benign fructosaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
492520015	EF - Essential fructosaemia	en	Synonym	Active	Case sensitive	SNOMED CT core
492521016	EF - Essential fructosemia	en	Synonym	Active	Case sensitive	SNOMED CT core
492522011	Essential fructosaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
63658012	Essential benign fructosuria	en	Synonym	Active	Case insensitive	SNOMED CT core
63659016	Hepatic fructokinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
63660014	Essential fructosuria	en	Synonym	Active	Case insensitive	SNOMED CT core
63661013	Fructokinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
63662018	Benign fructosemia	en	Synonym	Active	Case insensitive	SNOMED CT core
63663011	Essential fructosemia	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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