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\Generalized epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\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\Disorder of brain\Seizure disorder\Epilepsy\Generalized 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\Generalized epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy

\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy

\Generalized 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

\Generalized 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\Disorder of nervous 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\Disorder of nervous system\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disorder of nervous system\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Progressive myoclonic epilepsy\Spinal muscular atrophy with progressive myoclonic epilepsy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3009034016 Jankovic-Rivera syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3009071019 Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3009102011 Spinal muscular atrophy with progressive myoclonic epilepsy en Synonym Active Entire term case insensitive SNOMED CT core module

3009705018 Hereditary myoclonus with progressive distal muscular atrophy en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinal muscular atrophy with progressive myoclonic epilepsy	Is a	Progressive myoclonic epilepsy	true	Inferred relationship	Existential restriction modifier
Spinal muscular atrophy with progressive myoclonic epilepsy	Is a	Spinal muscular atrophy	true	Inferred relationship	Existential restriction modifier
Spinal muscular atrophy with progressive myoclonic epilepsy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spinal muscular atrophy with progressive myoclonic epilepsy	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	1
Spinal muscular atrophy with progressive myoclonic epilepsy	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier
Spinal muscular atrophy with progressive myoclonic epilepsy	Interprets	Movement	false	Inferred relationship	Existential restriction modifier	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	Active	Entire term case sensitive	SNOMED CT core module
3009071019	Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3009102011	Spinal muscular atrophy with progressive myoclonic epilepsy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3009705018	Hereditary myoclonus with progressive distal muscular atrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module