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Terminology chevron_right Concepts chevron_right 230669004

Production

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Component

230669004

The component that hold information about this concept.

Fully Specified Name (FSN)

Genetically determined myasthenia (disorder)

Shortest Term

Genetically determined myasthenia

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

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

Summary

Genetically determined myasthenia (disorder)

SCTID: 230669004, Defined, Active

230669004|Genetically determined myasthenia (disorder)|

en Genetically determined myasthenia
en Genetically determined myasthenia (disorder)

Expression

230669004 |Genetically determined myasthenia (disorder)|
 === 91637004 |Myasthenia gravis (disorder)| + 
363138005 |Hereditary disorder of immune system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 31627007 |Neuromuscular junction (cell structure)|,
370135005 |Pathological process (attribute)| = 263680009 |Autoimmune process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 370135005 |Pathological process (attribute)| = 472963003 |Hypersensitivity process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
345606012 - Genetically determined myasthenia (en) View
345606012	en	Synonym (core metadata concept)	Genetically determined myasthenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
618509012 - Genetically determined myasthenia (disorder) (en) View
618509012	en	Fully specified name (core metadata concept)	Genetically determined myasthenia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (492880022) - 230669004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (492881021) - 230669004 -> 31627007 (363698007) View
363698007 \|Finding site (attribute)\|	31627007 \|Neuromuscular junction (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1724579024) - 230669004 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4675190023) - 230669004 -> 472963003 (370135005) View
370135005 \|Pathological process (attribute)\|	472963003 \|Hypersensitivity process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11530464022) - 230669004 -> 31627007 (363698007) View
363698007 \|Finding site (attribute)\|	31627007 \|Neuromuscular junction (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11530465023) - 230669004 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11530466024) - 230669004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11530467026) - 230669004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11530468020) - 230669004 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2709998022) - 230669004 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3776450026) - 230669004 -> 421961002 (42752001) View
42752001 \|Due to (attribute)\|	421961002 \|Hypersensitivity reaction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3186931021) - 230669004 -> 418925002 (42752001) View
42752001 \|Due to (attribute)\|	418925002 \|Immune hypersensitivity reaction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (492882025) - 230669004 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (41219020) - 230669004 -> 91637004 (116680003) View
116680003 \|Is a (attribute)\|	91637004 \|Myasthenia gravis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
91637004 View
91637004	Myasthenia gravis (disorder)	Bệnh nhược cơ	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363138005 View
363138005	Hereditary disorder of immune system (disorder)	Hereditary disorder of immune system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	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
230672006 View
230672006	Congenital myasthenia (disorder)	Congenital myasthenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
230674007 View
230674007	Pseudomyopathic myasthenia (disorder)	Limb girdle myasthenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230676009 View
230676009	Putative defect in acetylcholine synthesis or packaging (disorder)	Putative defect in acetylcholine synthesis or packaging	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230678005 View
230678005	Decrease of motor end-plate potential amplitude without acetylcholine receptor deficiency (disorder)	Decrease of mepp amplitude without acetylcholine receptor deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230679002 View
230679002	Abnormality of synaptic vesicles (disorder)	Abnormality of synaptic vesicles	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (41ad1047-024f-5e67-b3ae-412213a8950b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G70.8	TRUE	ALWAYS G70.8	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)\|

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