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

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

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\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)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\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)\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\Epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Is a	Progressive myoclonic epilepsy	true	Inferred relationship	Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Is a	Spinal muscular atrophy	true	Inferred relationship	Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Finding site	Cerebrum	false	Inferred relationship	Some	1
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Interprets	Movement	false	Inferred relationship	Some	2
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1

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
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
3677851000052116	spinal muskelatrofi med progressiv myoklonusepilepsi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
3848001000052119	spinal muskelatrofi med progressiv myoklonisk epilepsi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)