5335002: Phosphoenolpyruvate carboxykinase deficiency (disorder)

SNOMED CT Concept\Clinical finding (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 (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Phosphoenolpyruvate carboxykinase (GTP) 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

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

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

885201000172111 déficit en phosphoénolpyruvate carboxykinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

997641000172112 déficit en PEPCK (phosphoénolpyruvate carboxykinase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

883861000172110 fosfo-enolpyruvaat-carboxykinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

925091000172110 PEPCK (phosphoenolpyruvate carboxykinase)-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Is a	Inborn error of pyruvate metabolism	true	Inferred relationship	Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	false	Inferred relationship	Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets