SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/703524005
http://purl.bioontology.org/ontology/SNOMEDCT/703524005
Preferred Name

Spinal muscular atrophy with progressive myoclonic epilepsy
Synonyms
Jankovic-Rivera syndrome
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
Hereditary myoclonus with progressive distal muscular atrophy
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Jankovic-Rivera syndrome
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
Hereditary myoclonus with progressive distal muscular atrophy
prefLabel
Spinal muscular atrophy with progressive myoclonic epilepsy
Type ID
900000000000003001
900000000000013009
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
notation
703524005
Effective time
20140731
Active
1
Has finding site
Has clinical course
subClassOf
Semantic type UMLS property
type
Subset member
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~G40.3
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS G40.3
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPADVICE~ALWAYS G12.1
6011000124106~MAPTARGET~G40.409
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS G12.9
447562003~MAPADVICE~ALWAYS G25.3
900000000000497000~MAPTARGET~XUnHT
447562003~MAPTARGET~G25.3
6011000124106~MAPPRIORITY~1
6011000124106~MAPTARGET~G12.9
6011000124106~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS G40.409
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~G12.1
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DEFINITION STATUS ID
900000000000074008
tui
T047
CTV3ID
XUnHT
cui
C1834569
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