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Terminology chevron_right Concepts chevron_right 783096008

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Component

783096008

The component that hold information about this concept.

Fully Specified Name (FSN)

Subaortic stenosis and short stature syndrome (disorder)

Shortest Term

Onat 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

Subaortic stenosis and short stature syndrome (disorder)

SCTID: 783096008, Primitive, Active

783096008|Subaortic stenosis and short stature syndrome (disorder)|

en Onat syndrome
en Subaortic stenosis and short stature syndrome
en Subaortic stenosis and short stature syndrome (disorder)

Expression

783096008 |Subaortic stenosis and short stature syndrome (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
73660006 |Congenital subaortic stenosis (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 415582006 |Stenosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 19797000 |Structure of subvalvular aortic region (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3757568013 - Onat syndrome (en) View
3757568013	en	Synonym (core metadata concept)	Onat syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3757569017 - Subaortic stenosis and short stature syndrome (en) View
3757569017	en	Synonym (core metadata concept)	Subaortic stenosis and short stature syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3757570016 - Subaortic stenosis and short stature syndrome (disorder) (en) View
3757570016	en	Fully specified name (core metadata concept)	Subaortic stenosis and short stature syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069753026) - 783096008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280583024) - 783096008 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11271914028) - 783096008 -> 73660006 (116680003) View
116680003 \|Is a (attribute)\|	73660006 \|Congenital subaortic stenosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11271915027) - 783096008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11271916026) - 783096008 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11271917024) - 783096008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11271918025) - 783096008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11271919022) - 783096008 -> 19797000 (363698007) View
363698007 \|Finding site (attribute)\|	19797000 \|Structure of subvalvular aortic region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11271920027) - 783096008 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11271921028) - 783096008 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11324665020) - 783096008 -> 415582006 (116676008) View
116676008 \|Associated morphology (attribute)\|	415582006 \|Stenosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
73660006 View
73660006	Congenital subaortic stenosis (disorder)	Congenital subaortic stenosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept 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
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	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

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 (e404e2c0-9605-5eef-97f8-6b973ef5da6d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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