237994003: Deletion and duplication of mitochondrial deoxyribonucleic acid (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 of mitochondrial respiratory chain complexes\Deletion and duplication of mitochondrial DNA

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deletion and duplication of mitochondrial DNA

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deletion and duplication of mitochondrial DNA

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

356708019 Deletion and duplication of mitochondrial DNA en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970493013 Deletion and duplication of mitochondrial deoxyribonucleic acid en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2970556016 Deletion and duplication of mitochondrial deoxyribonucleic acid (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5843011000241117 délétion et duplication de l'acide désoxyribonucléique mitochondrial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5843021000241112 délétion et duplication de l'ADN (acide désoxyribonucléique) mitochondrial fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deletion and duplication of mitochondrial DNA	Is a	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some
Deletion and duplication of mitochondrial DNA	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion and duplication of mitochondrial DNA	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Reference Sets