230320008: Autosomal recessive idiopathic familial dystonia (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia

\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive idiopathic familial dystonia
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Disease\Familial disease\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Disease\Movement disorder\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Disease\maladie idiopathique\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia

Status: current, 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

345148016 Autosomal recessive idiopathic familial dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
618110010 Autosomal recessive idiopathic familial dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive idiopathic familial dystonia	interprète (attribut)	Movement (observable entity)	true	Inferred relationship	Some	2
Autosomal recessive idiopathic familial dystonia	est un(e) (attribut)	Idiopathic familial dystonia	true	Inferred relationship	Some
Autosomal recessive idiopathic familial dystonia	localisation d'une constatation (attribut)	Extrapyramidal system structure	true	Inferred relationship	Some	1
Autosomal recessive idiopathic familial dystonia	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Autosomal recessive idiopathic familial dystonia	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Primary dystonia DYT17 type (disorder)	est un(e) (attribut)	True	Autosomal recessive idiopathic familial dystonia	Inferred relationship	Some
Primary dystonia type 2 (disorder)	est un(e) (attribut)	True	Autosomal recessive idiopathic familial dystonia	Inferred relationship	Some
Autosomal recessive dopa responsive dystonia (disorder)	est un(e) (attribut)	True	Autosomal recessive idiopathic familial dystonia	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
345148016	Autosomal recessive idiopathic familial dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618110010	Autosomal recessive idiopathic familial dystonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core