dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 726702005

Production

add

Component

726702005

The component that hold information about this concept.

Fully Specified Name (FSN)

Epileptic encephalopathy with global cerebral demyelination (disorder)

Shortest Term

Mitochondrial aspartate-glutamate carrier 1 deficiency

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

Epileptic encephalopathy with global cerebral demyelination (disorder)

SCTID: 726702005, Primitive, Active

726702005|Epileptic encephalopathy with global cerebral demyelination (disorder)|

en Epileptic encephalopathy with global cerebral demyelination
en Epileptic encephalopathy with global cerebral demyelination (disorder)
en Mitochondrial aspartate-glutamate carrier 1 deficiency

Expression

726702005 |Epileptic encephalopathy with global cerebral demyelination (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
240096000 |Mitochondrial cytopathy (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
702628006 |Congenital anomaly of cerebrum (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1275631007 |Developmental and epileptic encephalopathy (disorder)| + 
1144640007 |Hypomyelination of central nervous system structure (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 111007000 |Hypomyelination (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 83678007 |Cerebral structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3451872018 - Epileptic encephalopathy with global cerebral demyelination (en) View
3451872018	en	Synonym (core metadata concept)	Epileptic encephalopathy with global cerebral demyelination	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3451871013 - Epileptic encephalopathy with global cerebral demyelination (disorder) (en) View
3451871013	en	Fully specified name (core metadata concept)	Epileptic encephalopathy with global cerebral demyelination (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3451873011 - Mitochondrial aspartate-glutamate carrier 1 deficiency (en) View
3451873011	en	Synonym (core metadata concept)	Mitochondrial aspartate-glutamate carrier 1 deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16405747021) - 726702005 -> 1144640007 (116680003) View
116680003 \|Is a (attribute)\|	1144640007 \|Hypomyelination of central nervous system structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6955719028) - 726702005 -> 723125008 (116680003) View
116680003 \|Is a (attribute)\|	723125008 \|Epileptic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15627486026) - 726702005 -> 1275631007 (116680003) View
116680003 \|Is a (attribute)\|	1275631007 \|Developmental and epileptic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069511029) - 726702005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6955716024) - 726702005 -> 204039001 (116680003) View
116680003 \|Is a (attribute)\|	204039001 \|Anomalies of cerebrum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10532572022) - 726702005 -> 230764002 (116680003) View
116680003 \|Is a (attribute)\|	230764002 \|Congenital and developmental anomalies of the nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11354736020) - 726702005 -> 702628006 (116680003) View
116680003 \|Is a (attribute)\|	702628006 \|Congenital anomaly of cerebrum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6955721022) - 726702005 -> 111007000 (116676008) View
116676008 \|Associated morphology (attribute)\|	111007000 \|Hypomyelination (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6955722026) - 726702005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6955723020) - 726702005 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10532573028) - 726702005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532574023) - 726702005 -> 111007000 (116676008) View
116676008 \|Associated morphology (attribute)\|	111007000 \|Hypomyelination (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532575024) - 726702005 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532576020) - 726702005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6955720023) - 726702005 -> 91175000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	91175000 \|Seizure (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6955715023) - 726702005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6955717026) - 726702005 -> 240096000 (116680003) View
116680003 \|Is a (attribute)\|	240096000 \|Mitochondrial cytopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6955718020) - 726702005 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1144640007 View
1144640007	Hypomyelination of central nervous system structure (disorder)	Cns (central nervous system) hypomyelination	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1275631007 View
1275631007	Developmental and epileptic encephalopathy (disorder)	Developmental and epileptic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
702628006 View
702628006	Congenital anomaly of cerebrum (disorder)	Congenital anomaly of cerebrum	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
240096000 View
240096000	Mitochondrial cytopathy (disorder)	Mitochondrial disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (17036546-4cfd-5363-9773-32a098244983) 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)\|
ExtendedMap object (9e38f310-bf8e-58b2-a266-9bcee348dd6f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G37.8	TRUE	ALWAYS G37.8	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 (d10c4906-9c9d-567f-b64c-b78fb623066e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.2	TRUE	ALWAYS G40.2 \| 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)\|

Terminology chevron_right Concepts chevron_right 726702005

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches