53210006: Inborn error of pyruvate metabolism (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 (disorder)\Inborn error of pyruvate metabolism

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Inborn error of pyruvate metabolism

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Inborn error of pyruvate metabolism

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

88491015 Inborn error of pyruvate metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

791304019 Inborn error of pyruvate metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

88491015 Inborn error of pyruvate metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

88491015 Inborn error of pyruvate metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

791304019 Inborn error of pyruvate metabolism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

791304019 Inborn error of pyruvate metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4563851000241112 erreur innée du métabolisme du pyruvate fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4563851000241112 erreur innée du métabolisme du pyruvate fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inborn error of pyruvate metabolism	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inborn error of pyruvate metabolism	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inborn error of pyruvate metabolism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inborn error of pyruvate metabolism	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pyruvate dehydrogenase complex deficiency	Is a	True	Inborn error of pyruvate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Is a	True	Inborn error of pyruvate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Pyruvate carboxylase deficiency (disorder)	Is a	True	Inborn error of pyruvate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial pyruvate carrier deficiency	Is a	True	Inborn error of pyruvate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets