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

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy

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

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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 (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy

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	Is a	Progressive myoclonic epilepsy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinal muscular atrophy with progressive myoclonic epilepsy	Is a	Spinal muscular atrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinal muscular atrophy with progressive myoclonic epilepsy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinal muscular atrophy with progressive myoclonic epilepsy	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	Existential restriction modifier (core metadata concept)	1
Spinal muscular atrophy with progressive myoclonic epilepsy	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinal muscular atrophy with progressive myoclonic epilepsy	Interprets	Movement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinal muscular atrophy with progressive myoclonic epilepsy	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spinal muscular atrophy with progressive myoclonic epilepsy	Is a	Chronic brain syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinal muscular atrophy with progressive myoclonic epilepsy	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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	Only initial character case insensitive (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	Only initial character 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	Only initial character 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
3426501001000111	Spinale Muskelatrophie-progressive Myoklonusepilepsie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426501001000111	Spinale Muskelatrophie-progressive Myoklonusepilepsie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module