5335002: Phosphoenolpyruvate carboxykinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Phosphoenolpyruvate carboxykinase (GTP) deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Phosphoenolpyruvate carboxykinase (GTP) deficiency
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Phosphoenolpyruvate carboxykinase (GTP) deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Phosphoenolpyruvate carboxykinase (GTP) deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1231212010	Phosphoenolpyruvate carboxykinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
1231213017	PEPCK - Phosphoenolpyruvate carboxykinase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
2974470014	Phosphoenolpyruvate carboxykinase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
9938016	Phosphoenolpyruvate carboxykinase (GTP) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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