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Terminology chevron_right Concepts chevron_right 720506002

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Component

720506002

The component that hold information about this concept.

Fully Specified Name (FSN)

Deafness and myopia syndrome (disorder)

Shortest Term

Deafness and myopia 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

Deafness and myopia syndrome (disorder)

SCTID: 720506002, Primitive, Active

720506002|Deafness and myopia syndrome (disorder)|

en Deafness and myopia syndrome
en Deafness and myopia syndrome (disorder)
en High myopia and sensorineural deafness

Expression

720506002 |Deafness and myopia syndrome (disorder)|
 <<< 34187009 |Severe myopia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
25906001 |Disorder of ear (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| : 
        { 363698007 |Finding site (attribute)| = 117590005 |Ear structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 49549006 |Structure of visual system (body structure)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3321067013 - Deafness and myopia syndrome (en) View
3321067013	en	Synonym (core metadata concept)	Deafness and myopia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3321066016 - Deafness and myopia syndrome (disorder) (en) View
3321066016	en	Fully specified name (core metadata concept)	Deafness and myopia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3321068015 - High myopia and sensorineural deafness (en) View
3321068015	en	Synonym (core metadata concept)	High myopia and sensorineural deafness	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6765781024) - 720506002 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374408020) - 720506002 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091169022) - 720506002 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091170023) - 720506002 -> 25906001 (116680003) View
116680003 \|Is a (attribute)\|	25906001 \|Disorder of ear (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6765783022) - 720506002 -> 49549006 (363698007) View
363698007 \|Finding site (attribute)\|	49549006 \|Structure of visual system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6765784027) - 720506002 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6765778025) - 720506002 -> 34187009 (116680003) View
116680003 \|Is a (attribute)\|	34187009 \|Severe myopia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6765779022) - 720506002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6765780020) - 720506002 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6765782028) - 720506002 -> 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
788953003 View
788953003	Hereditary hearing loss (disorder)	Hereditary hearing loss	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
34187009 View
34187009	Severe myopia (disorder)	High myopia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
25906001 View
25906001	Disorder of ear (disorder)	Disorder of ear	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
232333009 View
232333009	Hearing loss associated with syndrome (disorder)	Syndromal deafness	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 (5e15fbe6-0c33-588d-a262-3a210f76edfd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H52.1	TRUE	ALWAYS H52.1	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 (a5167670-e0be-5a7d-a459-8e681c28bb17) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H90.5	TRUE	ALWAYS H90.5	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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