40278002: Hepatic fructokinase deficiency (disorder)

SNOMED CT Concept\Clinical finding (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 (disorder)\Fructosuria\Essential benign 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

63658012 Essential benign fructosuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

63659016 Hepatic fructokinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

63660014 Essential fructosuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

63661013 Fructokinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

63662018 Benign fructosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

63663011 Essential fructosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

492519014 Benign fructosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

492520015 EF - Essential fructosaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

492521016 EF - Essential fructosemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

492522011 Essential fructosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1203040015 Hepatic fructokinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5822581000172118 déficit en fructokinase hépatique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5036511000172111 hepatische fructokinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Essential benign fructosuria	Is a	Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	false	Inferred relationship	Some
Essential benign fructosuria	Finding site	Body system structure	false	Inferred relationship	Some
Essential benign fructosuria	Is a	Fructosuria	true	Inferred relationship	Some
Essential benign fructosuria	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Essential benign fructosuria	Is a	Enzymopathy	true	Inferred relationship	Some
Essential benign fructosuria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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Characteristic

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This concept is not in any reference sets