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Terminology chevron_right Concepts chevron_right 785726009

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Component

785726009

The component that hold information about this concept.

Fully Specified Name (FSN)

Hyperekplexia epilepsy syndrome (disorder)

Shortest Term

Hyperekplexia epilepsy 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

Hyperekplexia epilepsy syndrome (disorder)

SCTID: 785726009, Primitive, Active

785726009|Hyperekplexia epilepsy syndrome (disorder)|

en Hyperekplexia epilepsy syndrome
en Hyperekplexia epilepsy syndrome (disorder)

Expression

785726009 |Hyperekplexia epilepsy syndrome (disorder)|
 <<< 363235000 |Hereditary disorder of nervous system (disorder)| + 
129565002 |Disorder of skeletal and/or smooth muscle (disorder)| + 
60342002 |Movement disorder (disorder)| + 
19557000 |Hyperexplexia (finding)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| + 
1275631007 |Developmental and epileptic encephalopathy (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 87572000 |Reflex (observable entity)| }
        { 363698007 |Finding site (attribute)| = 71616004 |Skeletal and/or smooth muscle structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3768171012 - Hyperekplexia epilepsy syndrome (en) View
3768171012	en	Synonym (core metadata concept)	Hyperekplexia epilepsy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3768170013 - Hyperekplexia epilepsy syndrome (disorder) (en) View
3768170013	en	Fully specified name (core metadata concept)	Hyperekplexia epilepsy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12097964021) - 785726009 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16350803026) - 785726009 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11426455023) - 785726009 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316862027) - 785726009 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11426454022) - 785726009 -> 84757009 (116680003) View
116680003 \|Is a (attribute)\|	84757009 \|Epilepsy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11575865023) - 785726009 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15627494022) - 785726009 -> 1275631007 (116680003) View
116680003 \|Is a (attribute)\|	1275631007 \|Developmental and epileptic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15627495023) - 785726009 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095299029) - 785726009 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095300021) - 785726009 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096663022) - 785726009 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096664027) - 785726009 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11426461021) - 785726009 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14011170024) - 785726009 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069770023) - 785726009 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575866024) - 785726009 -> 386053000 (363714003) View
363714003 \|Interprets (attribute)\|	386053000 \|Evaluation procedure (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11426453027) - 785726009 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11426456024) - 785726009 -> 129565002 (116680003) View
116680003 \|Is a (attribute)\|	129565002 \|Disorder of skeletal and/or smooth muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11426457026) - 785726009 -> 60342002 (116680003) View
116680003 \|Is a (attribute)\|	60342002 \|Movement disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11426458020) - 785726009 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11426459028) - 785726009 -> 87572000 (363714003) View
363714003 \|Interprets (attribute)\|	87572000 \|Reflex (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11426462025) - 785726009 -> 19557000 (116680003) View
116680003 \|Is a (attribute)\|	19557000 \|Hyperexplexia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575867026) - 785726009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575868020) - 785726009 -> 71616004 (363698007) View
363698007 \|Finding site (attribute)\|	71616004 \|Skeletal and/or smooth muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	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
60342002 View
60342002	Movement disorder (disorder)	Rối loạn vận động	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	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
19557000 View
19557000	Hyperexplexia (finding)	Hyperekplexia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
129565002 View
129565002	Disorder of skeletal and/or smooth muscle (disorder)	Myopathy	900000000000073002 \|Sufficiently defined by necessary conditions 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 (a8a9eb74-c49d-5506-8c7e-bf4882bee1b2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G25.8	TRUE	ALWAYS G25.8 \| 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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