703524005: syndroom van spinale musculaire atrofie met progressieve myoklonische epilepsie (aandoening)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\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\Epilepsy\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\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\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\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)\Chronic brain syndrome\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\Autosomal recessive hereditary motor neuron disease (disorder)\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\Autosomal recessive hereditary motor neuron disease (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\Autosomal recessive hereditary motor neuron disease (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\Autosomal recessive hereditary motor neuron disease (disorder)\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 (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 (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\Autosomal recessive hereditary motor neuron disease (disorder)\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 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\Epilepsy\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 (disorder)\Chronic brain syndrome\Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (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:

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	false	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
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Is a	Autosomal recessive hereditary motor neuron disease (disorder)	true	Inferred relationship	Some

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
394611000146117	syndroom van Jankovic-Rivera	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11518551000146112	syndroom van erfelijke myoclonus met progressieve distale musculaire atrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11518561000146110	syndroom van spinale musculaire atrofie met progressieve myoklonische epilepsie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11518571000146116	syndroom van spinale musculaire atrofie met progressieve myoklonische epilepsie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11518581000146119	syndroom van hereditaire myoklonie met progressieve distale spieratrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)