28183005: Fructose-biphosphatase deficiency (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Fructose-biphosphatase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fructose-biphosphatase deficiency

\trouble métabolique\Inborn error of metabolism\Fructose-biphosphatase deficiency
\trouble métabolique\Enzymopathy\Fructose-biphosphatase deficiency
\trouble métabolique\Disorder of carbohydrate metabolism\Fructose metabolism disorder (disorder)\Fructose-biphosphatase deficiency

\Congenital disease\Inborn error of metabolism\Fructose-biphosphatase deficiency

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

1225814015 Fructose-1,6-bisphosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

47181017 Fructose-biphosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

47182012 Fructose-1,6-diphosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

47183019 Hereditary fructose-1,6-phosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

758834017 Fructose-biphosphatase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fructose-biphosphatase deficiency	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Fructose-biphosphatase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fructose-biphosphatase deficiency	est un(e) (attribut)	Fructose metabolism disorder (disorder)	true	Inferred relationship	Some
Fructose-biphosphatase deficiency	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Fructose-biphosphatase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Fructose-biphosphatase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)