703524005: Spinal muscular atrophy with progressive myoclonic epilepsy (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\Spinal muscular atrophy with progressive myoclonic epilepsy (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\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Spinal muscular atrophy with progressive myoclonic epilepsy (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\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Spinal muscular atrophy with progressive myoclonic epilepsy (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\Spinal muscular atrophy with progressive myoclonic epilepsy (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\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Spinal muscular atrophy with progressive myoclonic epilepsy (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\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Neurological finding (finding)\Seizure related finding\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic brain syndrome\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy (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\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Spinal muscular atrophy with progressive myoclonic epilepsy (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\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy (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
3009034016	Jankovic-Rivera syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009071019	Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009102011	Spinal muscular atrophy with progressive myoclonic epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009705018	Hereditary myoclonus with progressive distal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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