1162975000: maternaal overervende aandoening van mitochondriaal deoxyribonucleïnezuur (aandoening)

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
13116351000146117 maternaal overervende mtDNA-ziekte nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13301951000146115 maternaal overervende aandoening van mitochondrieel DNA nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13301961000146117 maternaal overervende aandoening van mitochondriaal deoxyribonucleïnezuur (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13301971000146111 maternaal overervende aandoening van mitochondriaal DNA nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13301981000146113 maternaal overervende aandoening van mitochondriaal desoxyribonucleïnezuur nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13301991000146110 maternaal overervende aandoening van mitochondriaal deoxyribonucleïnezuur nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands 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	False	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
Maternally inherited diabetes and deafness (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	True	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Inferred relationship	Some

Reference Sets