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Terminology chevron_right Concepts chevron_right 230671004

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Component

230671004

The component that hold information about this concept.

Fully Specified Name (FSN)

Acetylcholine resynthesis deficiency (disorder)

Shortest Term

Acetylcholine resynthesis 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

Acetylcholine resynthesis deficiency (disorder)

SCTID: 230671004, Primitive, Active

230671004|Acetylcholine resynthesis deficiency (disorder)|

en Acetylcholine resynthesis deficiency
en Acetylcholine resynthesis deficiency (disorder)

Expression

230671004 |Acetylcholine resynthesis deficiency (disorder)|
 <<< 230672006 |Congenital myasthenia (disorder)| + 
55051001 |Myasthenia gravis, juvenile form (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
345609017 - Acetylcholine resynthesis deficiency (en) View
345609017	en	Synonym (core metadata concept)	Acetylcholine resynthesis deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
618511015 - Acetylcholine resynthesis deficiency (disorder) (en) View
618511015	en	Fully specified name (core metadata concept)	Acetylcholine resynthesis deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (492887020) - 230671004 -> 31627007 (363698007) View
363698007 \|Finding site (attribute)\|	31627007 \|Neuromuscular junction (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1724581021) - 230671004 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4675761022) - 230671004 -> 472963003 (370135005) View
370135005 \|Pathological process (attribute)\|	472963003 \|Hypersensitivity process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6975559028) - 230671004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11530661022) - 230671004 -> 31627007 (363698007) View
363698007 \|Finding site (attribute)\|	31627007 \|Neuromuscular junction (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11530662026) - 230671004 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569396027) - 230671004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (41222022) - 230671004 -> 230670003 (116680003) View
116680003 \|Is a (attribute)\|	230670003 \|Familial infantile myasthenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (492886027) - 230671004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6975556024) - 230671004 -> 55051001 (116680003) View
116680003 \|Is a (attribute)\|	55051001 \|Myasthenia gravis, juvenile form (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6975557026) - 230671004 -> 230672006 (116680003) View
116680003 \|Is a (attribute)\|	230672006 \|Congenital myasthenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6975558020) - 230671004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2710000023) - 230671004 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3776668021) - 230671004 -> 421961002 (42752001) View
42752001 \|Due to (attribute)\|	421961002 \|Hypersensitivity reaction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3187044021) - 230671004 -> 418925002 (42752001) View
42752001 \|Due to (attribute)\|	418925002 \|Immune hypersensitivity reaction (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (492888026) - 230671004 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
55051001 View
55051001	Myasthenia gravis, juvenile form (disorder)	Myasthenia gravis, juvenile form	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 (325c2401-81d6-5798-a1ab-437d088208d3) 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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