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

\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

\Congenital disease (disorder)\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

10622501000172114 délétion et duplication de l'acide désoxyribonucléique mitochondrial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10622511000172112 délétion et duplication de l'ADN (acide désoxyribonucléique) mitochondrial fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4208351000172111 deletie en duplicatie van mitochondriaal deoxyribonucleïnezuur nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4208361000172113 deletie en duplicatie van mitochondriaal DNA nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4208371000172116 deletie en duplicatie van mitochondriaal desoxyribonucleïnezuur nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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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Active

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Reference Sets