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702423009: Deafness-dystonia-optic neuronopathy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2994976018 Deafness-dystonia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995040013 Mohr-Tranebjaerg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995219016 Deafness-dystonia-optic neuronopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995291017 Deafness-dystonia-optic neuronopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2994976018 Deafness-dystonia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2994976018 Deafness-dystonia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995040013 Mohr-Tranebjaerg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995219016 Deafness-dystonia-optic neuronopathy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995219016 Deafness-dystonia-optic neuronopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995291017 Deafness-dystonia-optic neuronopathy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995291017 Deafness-dystonia-optic neuronopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3410101001000111 Mohr-Tranebjaerg-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5448941000241115 syndrome surdité-dystonie-neuronopathie optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5448941000241115 syndrome surdité-dystonie-neuronopathie optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3410101001000111 Mohr-Tranebjaerg-Syndrom 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
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a Movement disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a Hearing disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness-dystonia-optic neuronopathy syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness-dystonia-optic neuronopathy syndrome (disorder) Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness-dystonia-optic neuronopathy syndrome (disorder) Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness-dystonia-optic neuronopathy syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness-dystonia-optic neuronopathy syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness-dystonia-optic neuronopathy syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness-dystonia-optic neuronopathy syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness-dystonia-optic neuronopathy syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness-dystonia-optic neuronopathy syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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