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

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

6358101000241112 maladie de l'ADN (acide désoxyribonucléique) mitochondrial héritée de la mère fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6358111000241114 maladie de l'acide désoxyribonucléique mitochondrial de transmission maternelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6358101000241112 maladie de l'ADN (acide désoxyribonucléique) mitochondrial héritée de la mère fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6358111000241114 maladie de l'acide désoxyribonucléique mitochondrial de transmission maternelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	Existential restriction modifier (core metadata concept)

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	Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial cardiomyopathy and myopathy	Is a	False	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternally inherited Leigh syndrome	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's optic atrophy	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
MT-ATP6-related mitochondrial spastic paraplegia	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial myopathy (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial cardiomyopathy (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternally inherited diabetes and deafness (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets