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717054001: maternaal overervende mitochondriale dystonie (aandoening)


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
6418021000146115 maternaal overervende mitochondriale dystonie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6418031000146118 mitochondriaal DNA-gerelateerde dystonie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6418041000146114 maternaal overervende mitochondriale dystonie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 Some
Maternally inherited mitochondrial dystonia (disorder) Is a Mitochondrial cytopathy (disorder) true Inferred relationship Some
Maternally inherited mitochondrial dystonia (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Maternally inherited mitochondrial dystonia (disorder) Finding site Extrapyramidal system structure true Inferred relationship Some 1
Maternally inherited mitochondrial dystonia (disorder) Interprets Movement true Inferred relationship Some 2
Maternally inherited mitochondrial dystonia (disorder) Is a Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) true Inferred relationship Some
Maternally inherited mitochondrial dystonia (disorder) Occurrence Childhood true Inferred relationship Some 1
Maternally inherited mitochondrial dystonia (disorder) Is a Hereditary metabolic disease false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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