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Terminology chevron_right Concepts chevron_right 717920004

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Component

717920004

The component that hold information about this concept.

Fully Specified Name (FSN)

Blindness, scoliosis, arachnodactyly syndrome (disorder)

Shortest Term

Blindness, scoliosis, arachnodactyly 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

Blindness, scoliosis, arachnodactyly syndrome (disorder)

SCTID: 717920004, Primitive, Active

717920004|Blindness, scoliosis, arachnodactyly syndrome (disorder)|

en Blindness, scoliosis, arachnodactyly syndrome
en Blindness, scoliosis, arachnodactyly syndrome (disorder)

Expression

717920004 |Blindness, scoliosis, arachnodactyly syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
105597003 |Blindness and/or vision impairment level (disorder)| + 
363045008 |Connective tissue hereditary disorder (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 21793004 |Connective tissue structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 49549006 |Structure of visual system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3324399014 - Blindness, scoliosis, arachnodactyly syndrome (en) View
3324399014	en	Synonym (core metadata concept)	Blindness, scoliosis, arachnodactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3324398018 - Blindness, scoliosis, arachnodactyly syndrome (disorder) (en) View
3324398018	en	Fully specified name (core metadata concept)	Blindness, scoliosis, arachnodactyly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6762528021) - 717920004 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6762529029) - 717920004 -> 49549006 (363698007) View
363698007 \|Finding site (attribute)\|	49549006 \|Structure of visual system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6762524023) - 717920004 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6762525024) - 717920004 -> 105597003 (116680003) View
116680003 \|Is a (attribute)\|	105597003 \|Blindness and/or vision impairment level (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6762526020) - 717920004 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6762527027) - 717920004 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363045008 View
363045008	Connective tissue hereditary disorder (disorder)	Connective tissue hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
105597003 View
105597003	Blindness and/or vision impairment level (disorder)	Blindness and/or vision impairment level	900000000000074008 \|Necessary but not sufficient concept 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 (13ed794d-d10c-53dc-9d58-174095816d58) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.5	TRUE	ALWAYS Q87.5 \| 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 (93bcf7cc-ab02-554b-b802-df21438012be) 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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