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Terminology chevron_right Concepts chevron_right 230672006

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Component

230672006

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital myasthenia (disorder)

Shortest Term

Congenital 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

Congenital myasthenia (disorder)

SCTID: 230672006, Defined, Active

230672006|Congenital myasthenia (disorder)|

en Congenital myasthenia syndrome
en Congenital myasthenic syndrome
en Congenital myasthenic syndrome (disorder)
en Congenital myasthenia

Expression

230672006 |Congenital myasthenia (disorder)|
 === 230669004 |Genetically determined myasthenia (disorder)| + 
66091009 |Congenital disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 31627007 |Neuromuscular junction (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
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
618512010 - Congenital myasthenia (disorder) (en) View
618512010	en	Fully specified name (core metadata concept)	Congenital myasthenia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3854361011 - Congenital myasthenia syndrome (en) View
3854361011	en	Synonym (core metadata concept)	Congenital myasthenia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3854360012 - Congenital myasthenic syndrome (en) View
3854360012	en	Synonym (core metadata concept)	Congenital myasthenic syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3854359019 - Congenital myasthenic syndrome (disorder) (en) View
3854359019	en	Fully specified name (core metadata concept)	Congenital myasthenic syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
345610010 - Congenital myasthenia (en) View
345610010	en	Synonym (core metadata concept)	Congenital myasthenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (492890025) - 230672006 -> 31627007 (363698007) View
363698007 \|Finding site (attribute)\|	31627007 \|Neuromuscular junction (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1724582025) - 230672006 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4675773022) - 230672006 -> 472963003 (370135005) View
370135005 \|Pathological process (attribute)\|	472963003 \|Hypersensitivity process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011264021) - 230672006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11530677023) - 230672006 -> 31627007 (363698007) View
363698007 \|Finding site (attribute)\|	31627007 \|Neuromuscular junction (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11530678029) - 230672006 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569448026) - 230672006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (492891026) - 230672006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2571534020) - 230672006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011263026) - 230672006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2710001022) - 230672006 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3777008027) - 230672006 -> 421961002 (42752001) View
42752001 \|Due to (attribute)\|	421961002 \|Hypersensitivity reaction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3187053025) - 230672006 -> 418925002 (42752001) View
42752001 \|Due to (attribute)\|	418925002 \|Immune hypersensitivity reaction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (492889023) - 230672006 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2532021024) - 230672006 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (41223028) - 230672006 -> 230669004 (116680003) View
116680003 \|Is a (attribute)\|	230669004 \|Genetically determined myasthenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
230669004 View
230669004	Genetically determined myasthenia (disorder)	Genetically determined myasthenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
66091009 View
66091009	Congenital disease (disorder)	Congenital disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1366554003 View
1366554003	Congenital myasthenic syndrome with glycosylation defect due to alg14 udp-n-acetylglucosaminyltransferase subunit gene mutation (disorder)	Congenital myasthenic syndrome with glycosylation defect due to alg14 gene mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230670003 View
230670003	Familial infantile myasthenia (disorder)	Familial infantile myasthenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230671004 View
230671004	Acetylcholine resynthesis deficiency (disorder)	Acetylcholine resynthesis deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230673001 View
230673001	Congenital end-plate acetylcholine receptor deficiency (disorder)	Congenital end-plate acetylcholine receptor deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230677000 View
230677000	Congenital end-plate acetylcholinesterase deficiency (disorder)	Congenital end-plate acetylcholinesterase deficiency	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 (9018007a-ae58-5072-b025-7c5779aab6fa) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G70.2	TRUE	ALWAYS G70.2	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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