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)\Disorder of mitochondrial respiratory chain complexes (disorder)\Depletion of mitochondrial DNA

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

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

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

626810018 Depletion of mitochondrial DNA (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970105015 Depletion of mitochondrial deoxyribonucleic acid 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 Only initial character 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

3392621001000117 Mitochondriales DNA-Depletionssyndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5852911000241113 déplétion 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

5852921000241118 déplétion de l'acide désoxyribonucléique mitochondrial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5852911000241113 déplétion 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

5852921000241118 déplétion de l'acide désoxyribonucléique mitochondrial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3392621001000117 Mitochondriales DNA-Depletionssyndrom de 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
Depletion of mitochondrial DNA	Is a	Disorder of mitochondrial respiratory chain complexes (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Depletion of mitochondrial DNA	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Depletion of mitochondrial DNA	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myoclonic epilepsy myopathy sensory ataxia (disorder)	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	False	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)
Fatal infantile lactic acidosis with methylmalonic aciduria	Is a	False	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive mitochondrial ataxia syndrome (disorder)	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)
Navajo neurohepatopathy	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	True	Depletion of mitochondrial DNA	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets