702326000: Progressive myoclonus epilepsy with ataxia (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)

Status: current, Not 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

2995418010 PRICKLE1-related progressive myoclonic epilepsy with ataxia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995588018 Progressive myoclonic epilepsy 1B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2995899014 Progressive myoclonus epilepsy with ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995906010 Progressive myoclonus epilepsy with ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7567871000241117 EMP (épilepsie myoclonique progressive) avec ataxie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7567881000241115 épilepsie myoclonique progressive avec ataxie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive myoclonus epilepsy with ataxia (disorder)	Is a	Progressive myoclonic epilepsy	true	Inferred relationship	Some
Progressive myoclonus epilepsy with ataxia (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Progressive myoclonus epilepsy with ataxia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Progressive myoclonus epilepsy with ataxia (disorder)	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Some	1
Progressive myoclonus epilepsy with ataxia (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Progressive myoclonus epilepsy with ataxia (disorder)	Interprets	mouvement	false	Inferred relationship	Some	2
Progressive myoclonus epilepsy with ataxia (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets