237995002: Depletion 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\Depletion of mitochondrial DNA

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

356709010 Depletion of mitochondrial DNA en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970105015 Depletion of mitochondrial deoxyribonucleic acid en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2970736019 Depletion of mitochondrial deoxyribonucleic acid (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myoclonic epilepsy myopathy sensory ataxia (disorder)	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Some
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	False	Depletion of mitochondrial DNA	Inferred relationship	Some
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Is a	False	Depletion of mitochondrial DNA	Inferred relationship	Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Some
Recessive mitochondrial ataxia syndrome (disorder)	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Some
Navajo neurohepatopathy	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Some

This concept is not in any reference sets