230319002: Autosomal dominant idiopathic familial dystonia (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia

\Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant idiopathic familial dystonia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia
\Disease\Familial disease (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia
\Disease\Idiopathic disease\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345147014 Autosomal dominant idiopathic familial dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618109017 Autosomal dominant idiopathic familial dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1774071000005119 autosomal dominant idiopatisk familiær dystoni da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant idiopathic familial dystonia	Is a	Idiopathic familial dystonia	true	Inferred relationship	Some
Autosomal dominant idiopathic familial dystonia	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	1
Autosomal dominant idiopathic familial dystonia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant idiopathic familial dystonia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Autosomal dominant idiopathic familial dystonia	Interprets	Movement	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dystonia 6	Is a	True	Autosomal dominant idiopathic familial dystonia	Inferred relationship	Some
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.	Is a	True	Autosomal dominant idiopathic familial dystonia	Inferred relationship	Some
DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).	Is a	True	Autosomal dominant idiopathic familial dystonia	Inferred relationship	Some
A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.	Is a	True	Autosomal dominant idiopathic familial dystonia	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
345147014	Autosomal dominant idiopathic familial dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618109017	Autosomal dominant idiopathic familial dystonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1774071000005119	autosomal dominant idiopatisk familiær dystoni	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)