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721092005: Developmental malformation, deafness, dystonia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5402603019 Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402604013 Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323461013 Developmental malformation, deafness, dystonia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323462018 Developmental malformation, deafness, dystonia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6075021000241112 syndrome d'anomalies du développement, surdité et dystonie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418381001000118 Entwicklungsdefekte-Schwerhörigkeit-Dystonie-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
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a Multiple system malformation syndrome true Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a Sensory hearing loss true Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a Congenital hearing disorder false Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a Hearing loss associated with syndrome true Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a Auditory system hereditary disorder true Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a Hereditary disorder of nervous system true Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a Generalized dystonia (disorder) true Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Finding site Extrapyramidal system structure (body structure) true Inferred relationship Some 4
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Finding site Cochlear structure true Inferred relationship Some 2
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Interprets Hearing true Inferred relationship Some 3
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Interprets entité observable fonctionnelle false Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Associated morphology anomalie du développement false Inferred relationship Some 5
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Occurrence Congenital false Inferred relationship Some 5
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Occurrence Congenital true Inferred relationship Some 1
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a Developmental hereditary disorder true Inferred relationship Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Interprets mouvement false Inferred relationship Some 5
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Interprets Movement observable true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Description inactivation indicator reference set

GB English

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