40278002: Hepatic fructokinase deficiency (disorder)

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

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hepatic fructokinase deficiency (disorder)

\trouble métabolique\Enzymopathy\Hepatic fructokinase deficiency (disorder)
\trouble métabolique\Disorder of carbohydrate metabolism\Fructose metabolism disorder (disorder)\Fructosuria\Hepatic fructokinase 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

1203040015 Hepatic fructokinase deficiency (disorder) en Fully specified name 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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hepatic fructokinase deficiency (disorder)	est un(e) (attribut)	Fructosuria	true	Inferred relationship	Some
Hepatic fructokinase deficiency (disorder)	est un(e) (attribut)	Hereditary disorder by system	false	Inferred relationship	Some
Hepatic fructokinase deficiency (disorder)	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Hepatic fructokinase deficiency (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hepatic fructokinase deficiency (disorder)	est un(e) (attribut)	Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	false	Inferred relationship	Some
Hepatic fructokinase deficiency (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets