dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 230677000

Production

add

Component

230677000

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital end-plate acetylcholinesterase deficiency (disorder)

Shortest Term

Congenital end-plate acetylcholinesterase 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

Congenital end-plate acetylcholinesterase deficiency (disorder)

SCTID: 230677000, Primitive, Active

230677000|Congenital end-plate acetylcholinesterase deficiency (disorder)|

en Congenital end-plate acetylcholinesterase deficiency
en Congenital end-plate acetylcholinesterase deficiency (disorder)

Expression

230677000 |Congenital end-plate acetylcholinesterase deficiency (disorder)|
 <<< 360586005 |Deficiency of acetylcholinesterase (disorder)| + 
230672006 |Congenital myasthenia (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
345616016 - Congenital end-plate acetylcholinesterase deficiency (en) View
345616016	en	Synonym (core metadata concept)	Congenital end-plate acetylcholinesterase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
618517016 - Congenital end-plate acetylcholinesterase deficiency (disorder) (en) View
618517016	en	Fully specified name (core metadata concept)	Congenital end-plate acetylcholinesterase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (41228021) - 230677000 -> 230669004 (116680003) View
116680003 \|Is a (attribute)\|	230669004 \|Genetically determined myasthenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (492904025) - 230677000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1724587020) - 230677000 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2532022028) - 230677000 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4675376028) - 230677000 -> 472963003 (370135005) View
370135005 \|Pathological process (attribute)\|	472963003 \|Hypersensitivity process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11530675026) - 230677000 -> 230672006 (116680003) View
116680003 \|Is a (attribute)\|	230672006 \|Congenital myasthenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11530676025) - 230677000 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5029532025) - 230677000 -> 257277002 (116680003) View
116680003 \|Is a (attribute)\|	257277002 \|Combined disorder of muscle and peripheral nerve (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5029533024) - 230677000 -> 386033004 (116680003) View
116680003 \|Is a (attribute)\|	386033004 \|Neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2571536022) - 230677000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008009021) - 230677000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5029534029) - 230677000 -> 31627007 (363698007) View
363698007 \|Finding site (attribute)\|	31627007 \|Neuromuscular junction (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2710005029) - 230677000 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3777060020) - 230677000 -> 421961002 (42752001) View
42752001 \|Due to (attribute)\|	421961002 \|Hypersensitivity reaction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3187302022) - 230677000 -> 418925002 (42752001) View
42752001 \|Due to (attribute)\|	418925002 \|Immune hypersensitivity reaction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (492903020) - 230677000 -> 31627007 (363698007) View
363698007 \|Finding site (attribute)\|	31627007 \|Neuromuscular junction (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (492905029) - 230677000 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (41229029) - 230677000 -> 360586005 (116680003) View
116680003 \|Is a (attribute)\|	360586005 \|Deficiency of acetylcholinesterase (disorder)\|	0	900000000000011006 \|Inferred relationship (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
360586005 View
360586005	Deficiency of acetylcholinesterase (disorder)	Deficiency of choline esterase i	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 (5762f23c-015a-594e-b3ae-66cfe57ab245) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G70.0	TRUE	ALWAYS G70.0 \| POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE	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 (e31d4cb8-68d9-5afb-bc47-45b3851713b2) 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)\|

Terminology chevron_right Concepts chevron_right 230677000

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches