dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 703524005

Production

add

Component

703524005

The component that hold information about this concept.

Fully Specified Name (FSN)

Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)

Shortest Term

Jankovic-rivera syndrome

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)

SCTID: 703524005, Primitive, Active

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

en Hereditary myoclonus with progressive distal muscular atrophy
en Spinal muscular atrophy with progressive myoclonic epilepsy
en Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
en Jankovic-rivera syndrome

Expression

703524005 |Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)|
 <<< 267581004 |Progressive myoclonic epilepsy (disorder)| + 
5262007 |Spinal muscular atrophy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
78689005 |Chronic brain syndrome (disorder)| : 
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3009705018 - Hereditary myoclonus with progressive distal muscular atrophy (en) View
3009705018	en	Synonym (core metadata concept)	Hereditary myoclonus with progressive distal muscular atrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3009102011 - Spinal muscular atrophy with progressive myoclonic epilepsy (en) View
3009102011	en	Synonym (core metadata concept)	Spinal muscular atrophy with progressive myoclonic epilepsy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3009071019 - Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) (en) View
3009071019	en	Fully specified name (core metadata concept)	Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3009034016 - Jankovic-Rivera syndrome (en) View
3009034016	en	Synonym (core metadata concept)	Jankovic-Rivera syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16085270026) - 703524005 -> 78689005 (116680003) View
116680003 \|Is a (attribute)\|	78689005 \|Chronic brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16085271027) - 703524005 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046426025) - 703524005 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15612000022) - 703524005 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13882843022) - 703524005 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046427023) - 703524005 -> 91175000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	91175000 \|Seizure (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046423022) - 703524005 -> 267581004 (116680003) View
116680003 \|Is a (attribute)\|	267581004 \|Progressive myoclonic epilepsy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046424027) - 703524005 -> 5262007 (116680003) View
116680003 \|Is a (attribute)\|	5262007 \|Spinal muscular atrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046425026) - 703524005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
5262007 View
5262007	Spinal muscular atrophy (disorder)	Spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78689005 View
78689005	Chronic brain syndrome (disorder)	Chronic brain syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
267581004 View
267581004	Progressive myoclonic epilepsy (disorder)	Progressive myoclonic epilepsy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (4718737c-86c3-5b15-852a-b5fb2a669672) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G12.1	TRUE	ALWAYS G12.1	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (d78cb5bc-7457-569a-a28d-eb03ec242313) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.3	TRUE	ALWAYS G40.3	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (fc208f18-e8a0-5edc-b4d6-9cc8561ccf68) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G25.3	TRUE	ALWAYS G25.3	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

Terminology chevron_right Concepts chevron_right 703524005

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches