240096000: Mitochondrial cytopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Mitochondrial cytopathy (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

359707011 Mitochondrial cytopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629193019 Mitochondrial cytopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2871257019 Mitochondrial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

359706019 Mitochondrial myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

359707011 Mitochondrial cytopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

359707011 Mitochondrial cytopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629193019 Mitochondrial cytopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

629193019 Mitochondrial cytopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2871257019 Mitochondrial disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2871257019 Mitochondrial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3389091001000119 Mitochondriopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5036811000241119 cytopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5036811000241119 cytopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3389091001000119 Mitochondriopathie 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
Mitochondrial cytopathy (disorder)	Is a	Metabolic myopathy (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial cytopathy (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial cytopathy (disorder)	Is a	Metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
WARS2-related combined oxidative phosphorylation defect	Is a	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.	Is a	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dystonia due to mitochondrial disease	Due to	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Myoclonic disorder due to mitochondrial disorder (disorder)	Due to	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Parkinsonism with polyneuropathy (disorder)	Is a	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome	Is a	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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This concept is not in any reference sets