1228857005: Progressive myoclonic epilepsy type 9 (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Progressive myoclonic epilepsy type 9

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome\Progressive myoclonic epilepsy type 9
\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 type 9
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Progressive myoclonic epilepsy type 9

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Finding of brain\Disorder of brain\Chronic brain syndrome\Progressive myoclonic epilepsy type 9

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

\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9

\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9

\Chronic brain syndrome\Progressive myoclonic epilepsy type 9

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

\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9

\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy type 9
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive myoclonic epilepsy type 9
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy type 9
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy type 9
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Chronic brain syndrome\Progressive myoclonic epilepsy type 9
\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 type 9
\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 type 9
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Progressive myoclonic epilepsy type 9
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Progressive myoclonic epilepsy type 9
\Disease\Disorder of head\Disorder of brain\Chronic brain syndrome\Progressive myoclonic epilepsy type 9
\Disease\Movement disorder\Progressive myoclonic epilepsy type 9
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Progressive myoclonic epilepsy type 9

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5063469013 Progressive myoclonic epilepsy type 9 en Synonym Active Entire term case insensitive SNOMED CT core module

5063470014 Progressive myoclonic epilepsy type 9 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5063471013 Progressive myoclonic epilepsy due to LMNB2 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

5063472018 Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

5063473011 Progressive myoclonus epilepsy type 9 en Synonym Active Entire term case insensitive SNOMED CT core module

5063474017 PME type 9 - progressive myoclonic epilepsy type 9 en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive myoclonic epilepsy type 9	Is a	Progressive myoclonic epilepsy	true	Inferred relationship	Existential restriction modifier
Progressive myoclonic epilepsy type 9	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Progressive myoclonic epilepsy type 9	Is a	Chronic brain syndrome	true	Inferred relationship	Existential restriction modifier
Progressive myoclonic epilepsy type 9	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Progressive myoclonic epilepsy type 9	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	1
Progressive myoclonic epilepsy type 9	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	3
Progressive myoclonic epilepsy type 9	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	2
Progressive myoclonic epilepsy type 9	Is a	Movement disorder	true	Inferred relationship	Existential restriction modifier

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
5063469013	Progressive myoclonic epilepsy type 9	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5063470014	Progressive myoclonic epilepsy type 9 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5063471013	Progressive myoclonic epilepsy due to LMNB2 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5063472018	Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5063473011	Progressive myoclonus epilepsy type 9	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5063474017	PME type 9 - progressive myoclonic epilepsy type 9	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module