240096000: mitochondriale cytopathie (aandoening)

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

7061021000146119 mitochondriale cytopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7061031000146117 mitochondriale cytopathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7442141000146116 mitochondriale aandoening nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7733791000146114 mitochondriële ziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10790181000146117 mitochondriale ziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10790171000146119 Aandoeningen met als kenmerken stoornissen in de celstofwisseling. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial cytopathy (disorder)	Is a	Metabolic myopathy	false	Inferred relationship	Some
Mitochondrial cytopathy (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Mitochondrial cytopathy (disorder)	Is a	Metabolic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
WARS2-related combined oxidative phosphorylation defect	Is a	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Some
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	Is a	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Some
Dystonia due to mitochondrial disease (disorder)	Due to	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Some	2
Myoclonic disorder due to mitochondrial disorder (disorder)	Due to	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Some	3
Mitochondrial tubulopathy (disorder)	Is a	True	Mitochondrial cytopathy (disorder)	Inferred relationship	Some

Start Page 2 of 2

This concept is not in any reference sets