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\Fructose-1,6-bisphosphate aldolase B deficiency

\Metabolic disease\Enzymopathy\Fructose-1,6-bisphosphate aldolase B deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Fructose metabolism disorder\Fructosuria\Fructose-1,6-bisphosphate aldolase B 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

33746011 Hereditary fructosuria en Synonym Active Entire term case insensitive SNOMED CT core module

33747019 Fructose-1-phosphate aldolase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

33748012 Hereditary fructose intolerance en Synonym Active Entire term case insensitive SNOMED CT core module

33749016 Fructose-biphosphate aldolase B deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

33750016 ALDB deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

33751017 Aldolase B deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

480276016 Fructosaemia en Synonym Active Entire term case insensitive SNOMED CT core module

480278015 Fructose-1,6-bisphosphate aldolase B deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

480279011 Fructose intolerance en Synonym Active Entire term case insensitive SNOMED CT core module

480280014 Fructosemia en Synonym Active Entire term case insensitive SNOMED CT core module

1186813010 Fructose-1,6-bisphosphate aldolase B deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

2646446018 ALDB - aldolase B deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hepatic fructokinase deficiency	Is a	False	Fructose-1,6-bisphosphate aldolase B deficiency	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets