703524005: Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\...
• \Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Generalised epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\...
• \Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Generalised epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \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
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spinal muscular atrophy with progressive myoclonic epilepsy
• \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
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Disease\Disorder of body system\Neurological disorder\Motor neurone disease\Lower motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Disease\Disorder of body system\Neurological disorder\Motor neurone disease\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3009034016	Jankovic-Rivera syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3009071019	Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3009102011	Spinal muscular atrophy with progressive myoclonic epilepsy	en	Synonym	Active	Case insensitive	SNOMED CT core
3009705018	Hereditary myoclonus with progressive distal muscular atrophy	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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