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Terminology chevron_right Concepts chevron_right 57838006

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Language with ID “0ad783d3-c76b-4d59-bf0d-1e2f258c275c” doesn’t exist. Perhaps it was deleted?

Component

57838006

The component that hold information about this concept.

Fully Specified Name (FSN)

Retinitis pigmentosa-deafness syndrome (disorder)

Shortest Term

Usher 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

Retinitis pigmentosa-deafness syndrome (disorder)

SCTID: 57838006, Primitive, Active

57838006|Retinitis pigmentosa-deafness syndrome (disorder)|

en Retinitis pigmentosa-deafness syndrome
en Retinitis pigmentosa-deafness syndrome (disorder)
en Usher's syndrome
en Usher syndrome

Expression

57838006 |Retinitis pigmentosa-deafness syndrome (disorder)|
 <<< 788953003 |Hereditary hearing loss (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
232053004 |Autosomal recessive retinitis pigmentosa (disorder)| + 
276654001 |Congenital malformation (disorder)| + 
700453005 |Congenital sensorineural hearing loss (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
96172019 - Retinitis pigmentosa-deafness syndrome (en) View
96172019	en	Synonym (core metadata concept)	Retinitis pigmentosa-deafness syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
796504017 - Retinitis pigmentosa-deafness syndrome (disorder) (en) View
796504017	en	Fully specified name (core metadata concept)	Retinitis pigmentosa-deafness syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
96173012 - Usher's syndrome (en) View
96173012	en	Synonym (core metadata concept)	Usher's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1231772018 - Usher syndrome (en) View
1231772018	en	Synonym (core metadata concept)	Usher syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (7340995025) - 57838006 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374364021) - 57838006 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13068916023) - 57838006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7340997022) - 57838006 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7340998028) - 57838006 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575667029) - 57838006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575668023) - 57838006 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7340999020) - 57838006 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7341000024) - 57838006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524747025) - 57838006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524748024) - 57838006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (242175025) - 57838006 -> 28835009 (116680003) View
116680003 \|Is a (attribute)\|	28835009 \|Retinitis pigmentosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1678286022) - 57838006 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7340993021) - 57838006 -> 232053004 (116680003) View
116680003 \|Is a (attribute)\|	232053004 \|Autosomal recessive retinitis pigmentosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7340994026) - 57838006 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7340996029) - 57838006 -> 700453005 (116680003) View
116680003 \|Is a (attribute)\|	700453005 \|Congenital sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341001023) - 57838006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (817336023) - 57838006 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5049166020) - 57838006 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5049167027) - 57838006 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (242174026) - 57838006 -> 312575000 (116680003) View
116680003 \|Is a (attribute)\|	312575000 \|Multisystem disorder u-v (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
700453005 View
700453005	Congenital sensorineural hearing loss (disorder)	Congenital sensorineural deafness	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
232053004 View
232053004	Autosomal recessive retinitis pigmentosa (disorder)	Autosomal recessive retinitis pigmentosa	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
276654001 View
276654001	Congenital malformation (disorder)	Dị tật bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1010610007 View
1010610007	Retinitis pigmentosa-deafness syndrome type 3 (disorder)	Usher syndrome type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
73119000 View
73119000	Retinitis pigmentosa-deafness-ataxia syndrome (disorder)	Hallgren's syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
232057003 View
232057003	Usher syndrome type 1 (disorder)	Usher syndrome type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
232058008 View
232058008	Usher syndrome type 2 (disorder)	Usher syndrome type 2	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 (02205401-a48b-57d4-8dde-f42ea0830303) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	OTHERWISE TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|
ExtendedMap object (439d250a-ca76-5dd6-843d-44f6fd781725) 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)\|
ExtendedMap object (49d565fd-a1b8-5953-bdc7-c243a46bed04) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H35.5	TRUE	ALWAYS H35.5 \| 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 (d65a8f76-4a0a-548a-aef1-ceaab10a81da) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.1	IFA 73119000 \| Retinitis pigmentosa-deafness-ataxia syndrome (disorder) \|	IF RETINITIS PIGMENTOSA-DEAFNESS-ATAXIA SYNDROME CHOOSE G11.1 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|

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