439732004: Myoclonic dystonia (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Myoclonic dystonia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Myoclonic dystonia (disorder)

\Finding of movement\Movement disorder\...

\Myoclonic disorder\Myoclonic dystonia (disorder)

\Extrapyramidal disease\Dystonia\Myoclonic dystonia (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Myoclonic dystonia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Myoclonic dystonia (disorder)

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Myoclonic disorder\Myoclonic dystonia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Myoclonic dystonia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Myoclonic dystonia (disorder)
\Disease\Movement disorder\Myoclonic disorder\Myoclonic dystonia (disorder)
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Myoclonic dystonia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2790034017 Myoclonic dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2792978018 Myoclonic dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5329081000241111 dystonie myoclonique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3436471001000117 Myoklonus-Dystonie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myoclonic dystonia (disorder)	Is a	Dystonia	true	Inferred relationship	Some
Myoclonic dystonia (disorder)	Finding site	Extrapyramidal system structure (body structure)	true	Inferred relationship	Some	1
Myoclonic dystonia (disorder)	Has definitional manifestation	Myoclonus	false	Inferred relationship	Some
Myoclonic dystonia (disorder)	Is a	Myoclonic disorder	true	Inferred relationship	Some
Myoclonic dystonia (disorder)	Interprets	mouvement	false	Inferred relationship	Some	2
Myoclonic dystonia (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.	Is a	False	Myoclonic dystonia (disorder)	Inferred relationship	Some

This concept is not in any reference sets