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Terminology chevron_right Concepts chevron_right 43152001

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Component

43152001

The component that hold information about this concept.

Fully Specified Name (FSN)

Central core disease (disorder)

Shortest Term

Central core disease

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

Central core disease (disorder)

SCTID: 43152001, Defined, Active

43152001|Central core disease (disorder)|

en Central core disease
en Central core disease (disorder)
en Central core myopathy

Expression

43152001 |Central core disease (disorder)|
 === 23853001 |Disorder of the central nervous system (disorder)| + 
257277002 |Combined disorder of muscle and peripheral nerve (disorder)| + 
268674003 |Developmental disorder of motor function (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
89886004 |Congenital anomaly of skeletal muscle (disorder)| + 
1899006 |Autosomal hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
1162508007 |Motor function (finding)| : 
        { 116676008 |Associated morphology (attribute)| = 29144003 |Central cores (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)| }
        { 363698007 |Finding site (attribute)| = 3058005 |Peripheral nervous system structure (body structure)| }
        { 363714003 |Interprets (attribute)| = 52479005 |Motor function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
71981018 - Central core disease (en) View
71981018	en	Synonym (core metadata concept)	Central core disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
780131019 - Central core disease (disorder) (en) View
780131019	en	Fully specified name (core metadata concept)	Central core disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2966549015 - Central core myopathy (en) View
2966549015	en	Synonym (core metadata concept)	Central core myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16344411025) - 43152001 -> 1162508007 (116680003) View
116680003 \|Is a (attribute)\|	1162508007 \|Motor function (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344412021) - 43152001 -> 23853001 (116680003) View
116680003 \|Is a (attribute)\|	23853001 \|Disorder of the central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344413027) - 43152001 -> 257277002 (116680003) View
116680003 \|Is a (attribute)\|	257277002 \|Combined disorder of muscle and peripheral nerve (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344414022) - 43152001 -> 268674003 (116680003) View
116680003 \|Is a (attribute)\|	268674003 \|Developmental disorder of motor function (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344415023) - 43152001 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344416024) - 43152001 -> 52479005 (363714003) View
363714003 \|Interprets (attribute)\|	52479005 \|Motor function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344417026) - 43152001 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344418020) - 43152001 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15054402029) - 43152001 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15054403023) - 43152001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15054404028) - 43152001 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4984410026) - 43152001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4984411027) - 43152001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4993357022) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531552025) - 43152001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531553024) - 43152001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1767122027) - 43152001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1767123021) - 43152001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3093910025) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (780103024) - 43152001 -> 29144003 (116676008) View
116676008 \|Associated morphology (attribute)\|	29144003 \|Central cores (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3093909024) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2979741027) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979742023) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914859024) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914860025) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821964020) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821965021) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675022028) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675023022) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (780102025) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2525820023) - 43152001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1675229029) - 43152001 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (218382023) - 43152001 -> 18148005 (116680003) View
116680003 \|Is a (attribute)\|	18148005 \|Congenital myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1675228021) - 43152001 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1162508007 View
1162508007	Motor function (finding)	Motor function	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
257277002 View
257277002	Combined disorder of muscle and peripheral nerve (disorder)	Myoneural disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1899006 View
1899006	Autosomal hereditary disorder (disorder)	Autosomal hereditary disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23853001 View
23853001	Disorder of the central nervous system (disorder)	Encephalomyeloneuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
89886004 View
89886004	Congenital anomaly of skeletal muscle (disorder)	Congenital anomaly of skeletal muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
268674003 View
268674003	Developmental disorder of motor function (disorder)	Developmental disorder of motor function	900000000000074008 \|Necessary but not sufficient concept 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
1201861004 View
1201861004	Autosomal dominant central core disease (disorder)	Autosomal dominant central core disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1201862006 View
1201862006	Autosomal recessive central core disease (disorder)	Autosomal recessive central core disease	900000000000073002 \|Sufficiently defined by necessary conditions 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 (9b8aa4c8-e001-591f-b714-7f047c80741e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.2	TRUE	ALWAYS G71.2	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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