783179009: cranio-cervicale dystonie met betrokkenheid van larynx en bovenste extremiteit (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Focal dystonia (disorder)\Isolated cervical dystonia\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Focal dystonia (disorder)\Isolated cervical dystonia\Cranio-cervical dystonia with laryngeal and upper limb involvement

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Focal dystonia (disorder)\Isolated cervical dystonia\Cranio-cervical dystonia with laryngeal and upper limb involvement

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Focal dystonia (disorder)\Isolated cervical dystonia\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Focal dystonia (disorder)\Isolated cervical dystonia\Cranio-cervical dystonia with laryngeal and upper limb involvement

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Focal dystonia (disorder)\Isolated cervical dystonia\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Focal dystonia (disorder)\Isolated cervical dystonia\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Focal dystonia (disorder)\Isolated cervical dystonia\Cranio-cervical dystonia with laryngeal and upper limb involvement
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Cranio-cervical dystonia with laryngeal and upper limb involvement

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cranio-cervical dystonia with laryngeal and upper limb involvement	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cranio-cervical dystonia with laryngeal and upper limb involvement	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Cranio-cervical dystonia with laryngeal and upper limb involvement	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Cranio-cervical dystonia with laryngeal and upper limb involvement	Is a	Isolated cervical dystonia	true	Inferred relationship	Some
Cranio-cervical dystonia with laryngeal and upper limb involvement	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	1
Cranio-cervical dystonia with laryngeal and upper limb involvement	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	2
Cranio-cervical dystonia with laryngeal and upper limb involvement	Interprets	Movement	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
10541381000146119	cranio-cervicale dystonie met betrokkenheid van larynx en bovenste extremiteit (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10541391000146117	cranio-cervicale dystonie met betrokkenheid van larynx en bovenste extremiteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10541401000146119	cranio-cervicale dystonie met betrokkenheid van strottenhoofd en arm	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11747281000146110	dystonie type 24	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11747291000146112	DYT24	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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