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Terminology chevron_right Concepts chevron_right 230673001

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230673001
The component that hold information about this concept.
Congenital end-plate acetylcholine receptor deficiency (disorder)
Congenital end-plate acetylcholine receptor deficiency
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

Congenital end-plate acetylcholine receptor deficiency (disorder)

SCTID: 230673001, Primitive, Active


230673001|Congenital end-plate acetylcholine receptor deficiency (disorder)|
  • en Congenital end-plate acetylcholine receptor deficiency
  • en Congenital end-plate acetylcholine receptor deficiency (disorder)

230673001 |Congenital end-plate acetylcholine receptor deficiency (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)| }
Active

345611014 - Congenital end-plate acetylcholine receptor deficiency (en) View

345611014
en
Synonym (core metadata concept)
Congenital end-plate acetylcholine receptor deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

618513017 - Congenital end-plate acetylcholine receptor deficiency (disorder) (en) View

618513017
en
Fully specified name (core metadata concept)
Congenital end-plate acetylcholine receptor deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (492893028) - 230673001 -> 31627007 (363698007) View

363698007 |Finding site (attribute)|
31627007 |Neuromuscular junction (cell structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (1724583024) - 230673001 -> 263680009 (370135005) View

370135005 |Pathological process (attribute)|
263680009 |Autoimmune process (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (4675777023) - 230673001 -> 472963003 (370135005) View

370135005 |Pathological process (attribute)|
472963003 |Hypersensitivity process (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (5011273029) - 230673001 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (11530692024) - 230673001 -> 31627007 (363698007) View

363698007 |Finding site (attribute)|
31627007 |Neuromuscular junction (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11530693025) - 230673001 -> 263680009 (370135005) View

370135005 |Pathological process (attribute)|
263680009 |Autoimmune process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11569488020) - 230673001 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (492892022) - 230673001 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2571535021) - 230673001 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (5011272023) - 230673001 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2710002026) - 230673001 -> 106182000 (363705008) View

363705008 |Has definitional manifestation (attribute)|
106182000 |Immune system finding (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (3776844026) - 230673001 -> 421961002 (42752001) View

42752001 |Due to (attribute)|
421961002 |Hypersensitivity reaction (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (3187054020) - 230673001 -> 418925002 (42752001) View

42752001 |Due to (attribute)|
418925002 |Immune hypersensitivity reaction (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (492894023) - 230673001 -> 116003000 (363698007) View

363698007 |Finding site (attribute)|
116003000 |Structure of immune system (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (41224023) - 230673001 -> 230672006 (116680003) View

116680003 |Is a (attribute)|
230672006 |Congenital myasthenia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

230672006 View

230672006
Congenital myasthenia (disorder)
Congenital myasthenia
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (b05799db-3cae-5623-b3ae-04ec2d6f7757) 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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