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783179009: Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757973010 Dystonia 24 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757974016 Cranio-cervical dystonia with laryngeal and upper limb involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757975015 DYT24 - dystonia 24 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757976019 Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757977011 A rare genetic isolated dystonia with characteristics of a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported. Caused by heterozygous mutation in the ANO3 gene on chromosome 11p14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757973010 Dystonia 24 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757974016 Cranio-cervical dystonia with laryngeal and upper limb involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757975015 DYT24 - dystonia 24 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757976019 Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757977011 A rare genetic isolated dystonia with characteristics of a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported. Caused by heterozygous mutation in the ANO3 gene on chromosome 11p14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434931001000115 Kraniozervikale Dystonie mit Beteiligung des Larynx und der oberen Extremitäten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5856711000241110 dystonie craniocervicale avec atteinte du larynx et du membre supérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5856721000241115 dystonie de type 24 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5856711000241110 dystonie craniocervicale avec atteinte du larynx et du membre supérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5856721000241115 dystonie de type 24 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434931001000115 Kraniozervikale Dystonie mit Beteiligung des Larynx und der oberen Extremitäten 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
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) Is a Isolated cervical dystonia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) Finding site Extrapyramidal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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