40278002: Hepatic fructokinase deficiency (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hepatic fructokinase deficiency

\Metabolic disease\Enzymopathy\Hepatic fructokinase deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Fructose metabolism disorder\Fructosuria\Hepatic fructokinase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

63658012 Essential benign fructosuria en Synonym Active Entire term case insensitive SNOMED CT core module

63659016 Hepatic fructokinase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

63660014 Essential fructosuria en Synonym Active Entire term case insensitive SNOMED CT core module

63661013 Fructokinase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

63662018 Benign fructosemia en Synonym Active Entire term case insensitive SNOMED CT core module

63663011 Essential fructosemia en Synonym Active Entire term case insensitive SNOMED CT core module

492519014 Benign fructosaemia en Synonym Active Entire term case insensitive SNOMED CT core module

492520015 EF - Essential fructosaemia en Synonym Active Entire term case sensitive SNOMED CT core module

492521016 EF - Essential fructosemia en Synonym Active Entire term case sensitive SNOMED CT core module

492522011 Essential fructosaemia en Synonym Active Entire term case insensitive SNOMED CT core module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hepatic fructokinase deficiency	Is a	Fructose-1,6-bisphosphate aldolase B deficiency	false	Inferred relationship	Existential restriction modifier
Hepatic fructokinase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Hepatic fructokinase deficiency	Is a	Fructosuria	true	Inferred relationship	Existential restriction modifier
Hepatic fructokinase deficiency	Is a	Hereditary disorder by system	false	Inferred relationship	Existential restriction modifier
Hepatic fructokinase deficiency	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Hepatic fructokinase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets