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\Inborn error of pyruvate metabolism (disorder)

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

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

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

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 (disorder)	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Inborn error of pyruvate metabolism (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Inborn error of pyruvate metabolism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Inborn error of pyruvate metabolism (disorder)	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pyruvate dehydrogenase complex deficiency	Is a	True	Inborn error of pyruvate metabolism (disorder)	Inferred relationship	Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Is a	True	Inborn error of pyruvate metabolism (disorder)	Inferred relationship	Some
Pyruvate carboxylase deficiency	Is a	True	Inborn error of pyruvate metabolism (disorder)	Inferred relationship	Some
A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).	Is a	True	Inborn error of pyruvate metabolism (disorder)	Inferred relationship	Some

This concept is not in any reference sets