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Terminology chevron_right Concepts chevron_right 699328003

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Component

699328003

The component that hold information about this concept.

Fully Specified Name (FSN)

Myoclonic epilepsy myopathy sensory ataxia (disorder)

Shortest Term

Spinocerebellar ataxia with epilepsy

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

Myoclonic epilepsy myopathy sensory ataxia (disorder)

SCTID: 699328003, Primitive, Active

699328003|Myoclonic epilepsy myopathy sensory ataxia (disorder)|

en Memsa - myoclonic epilepsy myopathy sensory ataxia
en Myoclonic epilepsy myopathy sensory ataxia
en Myoclonic epilepsy myopathy sensory ataxia (disorder)
en Spinocerebellar ataxia with epilepsy

Expression

699328003 |Myoclonic epilepsy myopathy sensory ataxia (disorder)|
 <<< 91502009 |Spinocerebellar disease (disorder)| + 
237995002 |Depletion of mitochondrial deoxyribonucleic acid (disorder)| + 
37650008 |Hereditary cerebellar degeneration (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 2748008 |Spinal cord structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2983908011 - MEMSA - myoclonic epilepsy myopathy sensory ataxia (en) View
2983908011	en	Synonym (core metadata concept)	MEMSA - myoclonic epilepsy myopathy sensory ataxia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2983952015 - Myoclonic epilepsy myopathy sensory ataxia (en) View
2983952015	en	Synonym (core metadata concept)	Myoclonic epilepsy myopathy sensory ataxia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2983928010 - Myoclonic epilepsy myopathy sensory ataxia (disorder) (en) View
2983928010	en	Fully specified name (core metadata concept)	Myoclonic epilepsy myopathy sensory ataxia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2983919014 - Spinocerebellar ataxia with epilepsy (en) View
2983919014	en	Synonym (core metadata concept)	Spinocerebellar ataxia with epilepsy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15120463025) - 699328003 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4777250026) - 699328003 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4777252023) - 699328003 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4778502028) - 699328003 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12088966022) - 699328003 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12088967029) - 699328003 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12088968023) - 699328003 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4777249026) - 699328003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4777245021) - 699328003 -> 91502009 (116680003) View
116680003 \|Is a (attribute)\|	91502009 \|Spinocerebellar disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4777246022) - 699328003 -> 237995002 (116680003) View
116680003 \|Is a (attribute)\|	237995002 \|Depletion of mitochondrial deoxyribonucleic acid (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4777247029) - 699328003 -> 37650008 (116680003) View
116680003 \|Is a (attribute)\|	37650008 \|Hereditary cerebellar degeneration (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4777248023) - 699328003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4778501024) - 699328003 -> 2748008 (363698007) View
363698007 \|Finding site (attribute)\|	2748008 \|Spinal cord structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91502009 View
91502009	Spinocerebellar disease (disorder)	Spinocerebellar disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37650008 View
37650008	Hereditary cerebellar degeneration (disorder)	Hereditary cerebellar degeneration	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
237995002 View
237995002	Depletion of mitochondrial deoxyribonucleic acid (disorder)	Depletion of mitochondrial dna	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 (7b081c6f-cbba-5f14-bc13-83e98d7ad235) 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 (dfe32371-f717-5036-a20a-9c7f54e67f81) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.9	TRUE	ALWAYS G11.9	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 (e9c441b5-c6df-593f-b83c-184f30b1dd5f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	TRUE	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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)\|

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