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Terminology chevron_right Concepts chevron_right 829973009

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Component

829973009

The component that hold information about this concept.

Fully Specified Name (FSN)

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder)

Shortest Term

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

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

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder)

SCTID: 829973009, Primitive, Active

829973009|Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder)|

en Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
en Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder)

Expression

829973009 |Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder)|
 <<< 85828009 |Autoimmune disease (disorder)| + 
413835007 |Chronic disease of immune structure (disorder)| + 
42111000175103 |Autoinflammatory disease (disorder)| + 
363138005 |Hereditary disorder of immune system (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
128237006 |Chronic disease of musculoskeletal system (disorder)| + 
413834006 |Chronic disease of immune function (disorder)| + 
442459007 |Combined immunodeficiency disease (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
75047002 |Disorder of skeletal muscle (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 409774005 |Inflammatory morphology (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 90734009 |Chronic (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 370135005 |Pathological process (attribute)| = 263680009 |Autoimmune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3880144018 - Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (en) View
3880144018	en	Synonym (core metadata concept)	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3880145017 - Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder) (en) View
3880145017	en	Fully specified name (core metadata concept)	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12247089028) - 829973009 -> 128139000 (116680003) View
116680003 \|Is a (attribute)\|	128139000 \|Inflammatory disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15244145020) - 829973009 -> 413835007 (116680003) View
116680003 \|Is a (attribute)\|	413835007 \|Chronic disease of immune structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15244146021) - 829973009 -> 42111000175103 (116680003) View
116680003 \|Is a (attribute)\|	42111000175103 \|Autoinflammatory disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15244147028) - 829973009 -> 85828009 (116680003) View
116680003 \|Is a (attribute)\|	85828009 \|Autoimmune disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15244148022) - 829973009 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15244149025) - 829973009 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247086024) - 829973009 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247087026) - 829973009 -> 442459007 (116680003) View
116680003 \|Is a (attribute)\|	442459007 \|Combined immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247088020) - 829973009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247090021) - 829973009 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247091020) - 829973009 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247092029) - 829973009 -> 128237006 (116680003) View
116680003 \|Is a (attribute)\|	128237006 \|Chronic disease of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247093023) - 829973009 -> 413834006 (116680003) View
116680003 \|Is a (attribute)\|	413834006 \|Chronic disease of immune function (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247094028) - 829973009 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247095027) - 829973009 -> 409774005 (116676008) View
116676008 \|Associated morphology (attribute)\|	409774005 \|Inflammatory morphology (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247097024) - 829973009 -> 90734009 (263502005) View
263502005 \|Clinical course (attribute)\|	90734009 \|Chronic (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12247101026) - 829973009 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
42111000175103 View
42111000175103	Autoinflammatory disease (disorder)	Autoinflammatory disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
442459007 View
442459007	Combined immunodeficiency disease (disorder)	Combined immunodeficiency disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
413834006 View
413834006	Chronic disease of immune function (disorder)	Chronic disease of immune function	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
413835007 View
413835007	Chronic disease of immune structure (disorder)	Chronic disease of immune structure	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85828009 View
85828009	Autoimmune disease (disorder)	Bệnh tự miễn	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
75047002 View
75047002	Disorder of skeletal muscle (disorder)	Disorder of muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128237006 View
128237006	Chronic disease of musculoskeletal system (disorder)	Chronic musculoskeletal disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363138005 View
363138005	Hereditary disorder of immune system (disorder)	Hereditary disorder of immune system	900000000000073002 \|Sufficiently defined by necessary conditions 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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1365687001 View
1365687001	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis due to hoip deficiency (disorder)	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis due to rnf31 mutation	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 (40ea551c-bfbe-5d49-b0bd-74a5361e90bf) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	M35.8	TRUE	ALWAYS M35.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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