20052008: Fructose-1,6-bisphosphate aldolase B deficiency (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fructose-1,6-bisphosphate aldolase B deficiency (disorder)

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Essential benign fructosuria	Is a	False	Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records

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Id	Description	Lang	Type	Status	Case?	Module
33746011	Hereditary fructosuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
33747019	Fructose-1-phosphate aldolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
33748012	Hereditary fructose intolerance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
33749016	Fructose-biphosphate aldolase B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
33750016	ALDB deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
33751017	Aldolase B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
480276016	Fructosaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
480278015	Fructose-1,6-bisphosphate aldolase B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
480279011	Fructose intolerance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
480280014	Fructosemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1186813010	Fructose-1,6-bisphosphate aldolase B deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2646446018	ALDB - aldolase B deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5718071000172116	intolérance héréditaire au fructose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5718081000172118	fructosémie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5718091000172115	intolérance au fructose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
8977581000172118	déficit en fructose-1,6-biphosphonate aldolase B	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
9023331000172113	déficit en aldolase B	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4256241000172112	hereditaire fructose-intolerantie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4256251000172114	fructose-1,6-bisphosphate-aldolase-B-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4256261000172111	erfelijke fructose-intolerantie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4256271000172119	adolase-B-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
8539451000172113	fructose intolerantie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)