5335002: déficit en phosphoénolpyruvate carboxykinase (trouble)

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

\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism (disorder)\Phosphoenolpyruvate carboxykinase deficiency (disorder)

\trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism (disorder)\Phosphoenolpyruvate carboxykinase deficiency (disorder)
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Phosphoenolpyruvate carboxykinase deficiency (disorder)

\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism (disorder)\Phosphoenolpyruvate carboxykinase 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

1231212010 Phosphoenolpyruvate carboxykinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1231213017 PEPCK - Phosphoenolpyruvate carboxykinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2974470014 Phosphoenolpyruvate carboxykinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

387511000241110 déficit en phosphoénolpyruvate carboxykinase (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

885201000172111 déficit en phosphoénolpyruvate carboxykinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

9938016 Phosphoenolpyruvate carboxykinase (GTP) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

997641000172112 déficit en PEPCK (phosphoénolpyruvate carboxykinase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phosphoenolpyruvate carboxykinase deficiency (disorder)	est un(e) (attribut)	Inborn error of pyruvate metabolism (disorder)	true	Inferred relationship	Some
Phosphoenolpyruvate carboxykinase deficiency (disorder)	est un(e) (attribut)	Disorder of pyruvate metabolism and mitochondrial respiratory chain	false	Inferred relationship	Some
Phosphoenolpyruvate carboxykinase deficiency (disorder)	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Phosphoenolpyruvate carboxykinase deficiency (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Phosphoenolpyruvate carboxykinase deficiency (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

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Reference Sets

Canada French language reference set (foundation metadata concept)