763349002: Progressive myoclonic epilepsy with dystonia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Progressive myoclonic epilepsy with dystonia

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Progressive myoclonic epilepsy with dystonia
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Extrapyramidal disease\Dystonia\Progressive myoclonic epilepsy with dystonia

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Progressive myoclonic epilepsy with dystonia

\Disorder of head\Disorder of brain\...

\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia

\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia

\Extrapyramidal disease\Dystonia\Progressive myoclonic epilepsy with dystonia

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia

\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy with dystonia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive myoclonic epilepsy with dystonia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy with dystonia
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy with dystonia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Extrapyramidal disease\Dystonia\Progressive myoclonic epilepsy with dystonia
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy with dystonia
\Disease\Disorder of head\Disorder of brain\Extrapyramidal disease\Dystonia\Progressive myoclonic epilepsy with dystonia
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Progressive myoclonic epilepsy with dystonia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3638646019 Progressive myoclonus epilepsy with dystonia en Synonym Active Entire term case insensitive SNOMED CT core module

3638647011 Progressive myoclonic epilepsy with dystonia en Synonym Active Entire term case insensitive SNOMED CT core module

3638648018 Progressive myoclonic epilepsy with dystonia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive myoclonic epilepsy with dystonia	Is a	Dystonia	true	Inferred relationship	Existential restriction modifier
Progressive myoclonic epilepsy with dystonia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Progressive myoclonic epilepsy with dystonia	Is a	Progressive myoclonic epilepsy	true	Inferred relationship	Existential restriction modifier
Progressive myoclonic epilepsy with dystonia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Progressive myoclonic epilepsy with dystonia	Finding site	Extrapyramidal system structure	true	Inferred relationship	Existential restriction modifier	1
Progressive myoclonic epilepsy with dystonia	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	2
Progressive myoclonic epilepsy with dystonia	Is a	Myoclonic dystonia	false	Inferred relationship	Existential restriction modifier
Progressive myoclonic epilepsy with dystonia	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3638646019	Progressive myoclonus epilepsy with dystonia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3638647011	Progressive myoclonic epilepsy with dystonia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3638648018	Progressive myoclonic epilepsy with dystonia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module