1162975000: Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4592709012 Maternally inherited mitochondrial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4592761012 Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4592762017 Maternally inherited mitochondrial deoxyribonucleic acid disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4592835016 Maternally inherited mtDNA (mitochondrial deoxyribonucleic acid) disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5331351000052117 maternellt ärvd mitokondrie-DNA-sjukdom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Is a	Hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Maternally inherited mitochondrial dystonia (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy and myopathy	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some
Maternally inherited Leigh syndrome (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some
Leber's optic atrophy	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some
Maternally inherited mitochondrial myopathy (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some

Reference Sets