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Terminology chevron_right Concepts chevron_right 720609003

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Component

720609003

The component that hold information about this concept.

Fully Specified Name (FSN)

Cardiomyopathy with cataract and hip spine disease syndrome (disorder)

Shortest Term

Krasnow qazi syndrome

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

Cardiomyopathy with cataract and hip spine disease syndrome (disorder)

SCTID: 720609003, Primitive, Active

720609003|Cardiomyopathy with cataract and hip spine disease syndrome (disorder)|

en Cardiomyopathy with cataract and hip spine disease syndrome
en Cardiomyopathy with cataract and hip spine disease syndrome (disorder)
en Krasnow qazi syndrome

Expression

720609003 |Cardiomyopathy with cataract and hip spine disease syndrome (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
372109003 |Disorder of joint of spine (disorder)| + 
399020009 |Congestive cardiomyopathy (disorder)| + 
399305009 |Nonsenile cataract (disorder)| + 
428097001 |Disorder of hip joint (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78076003 |Structure of lens of eye (body structure)| }
        { 363698007 |Finding site (attribute)| = 8983005 |Joint structure of spine (body structure)| }
        { 363698007 |Finding site (attribute)| = 24136001 |Hip joint structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 25322007 |Dilatation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 74281007 |Myocardium structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3320894015 - Cardiomyopathy with cataract and hip spine disease syndrome (en) View
3320894015	en	Synonym (core metadata concept)	Cardiomyopathy with cataract and hip spine disease syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3320893014 - Cardiomyopathy with cataract and hip spine disease syndrome (disorder) (en) View
3320893014	en	Fully specified name (core metadata concept)	Cardiomyopathy with cataract and hip spine disease syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3320895019 - Krasnow Qazi syndrome (en) View
3320895019	en	Synonym (core metadata concept)	Krasnow Qazi syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6681236024) - 720609003 -> 8983005 (363698007) View
363698007 \|Finding site (attribute)\|	8983005 \|Joint structure of spine (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681237026) - 720609003 -> 24136001 (363698007) View
363698007 \|Finding site (attribute)\|	24136001 \|Hip joint structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681240026) - 720609003 -> 128306009 (116676008) View
116676008 \|Associated morphology (attribute)\|	128306009 \|Cataract (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681241027) - 720609003 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11571379025) - 720609003 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11583021020) - 720609003 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681228026) - 720609003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681229023) - 720609003 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681230029) - 720609003 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681231025) - 720609003 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681232021) - 720609003 -> 372109003 (116680003) View
116680003 \|Is a (attribute)\|	372109003 \|Disorder of joint of spine (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681233027) - 720609003 -> 399020009 (116680003) View
116680003 \|Is a (attribute)\|	399020009 \|Congestive cardiomyopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681234022) - 720609003 -> 399305009 (116680003) View
116680003 \|Is a (attribute)\|	399305009 \|Nonsenile cataract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681235023) - 720609003 -> 428097001 (116680003) View
116680003 \|Is a (attribute)\|	428097001 \|Disorder of hip joint (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681238020) - 720609003 -> 25322007 (116676008) View
116676008 \|Associated morphology (attribute)\|	25322007 \|Dilatation (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681239028) - 720609003 -> 74281007 (363698007) View
363698007 \|Finding site (attribute)\|	74281007 \|Myocardium structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
399020009 View
399020009	Congestive cardiomyopathy (disorder)	Bệnh cơ tim giãn	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
428097001 View
428097001	Disorder of hip joint (disorder)	Disorder of hip joint	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
399305009 View
399305009	Nonsenile cataract (disorder)	Nonsenile cataract	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
372109003 View
372109003	Disorder of joint of spine (disorder)	Spondyloarthropathy	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
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular system hereditary disorder	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
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (01b0fae0-8264-530f-81f7-b09790d2262f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H26.0	TRUE	ALWAYS H26.0	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 (0fc1184a-3646-5d37-a947-e149e39b4d2d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	I42.0	TRUE	ALWAYS I42.0 \| 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)\|
ExtendedMap object (45964bfc-90ca-5c44-8c95-a6f5aae70251) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	M25.90	TRUE	ALWAYS M25.90	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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