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717054001: Maternally inherited mitochondrial dystonia (disorder)

Status: current, 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
3308304013 Maternally inherited mitochondrial dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308305014 Maternally inherited mitochondrial dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401480011 Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401481010 Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308304013 Maternally inherited mitochondrial dystonia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308304013 Maternally inherited mitochondrial dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308305014 Maternally inherited mitochondrial dystonia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308305014 Maternally inherited mitochondrial dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308306010 A rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308307018 A rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401480011 Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401481010 Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3436911001000117 Mitochondriale DNA-assoziierte Dystonie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6356481000241110 dystonie mitochondriale héritée de la mère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6356491000241112 dystonie mitochondriale de transmission maternelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6356481000241110 dystonie mitochondriale héritée de la mère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6356491000241112 dystonie mitochondriale de transmission maternelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436911001000117 Mitochondriale DNA-assoziierte Dystonie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Maternally inherited mitochondrial dystonia (disorder) Is a Dystonia true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial dystonia (disorder) Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial dystonia (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial dystonia (disorder) Finding site Extrapyramidal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternally inherited mitochondrial dystonia (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 2
Maternally inherited mitochondrial dystonia (disorder) Is a Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial dystonia (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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