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Terminology chevron_right Concepts chevron_right 1010610007

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Component

1010610007

The component that hold information about this concept.

Fully Specified Name (FSN)

Retinitis pigmentosa-deafness syndrome type 3 (disorder)

Shortest Term

Usher syndrome type 3

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 type 3 (disorder)

SCTID: 1010610007, Primitive, Active

1010610007|Retinitis pigmentosa-deafness syndrome type 3 (disorder)|

en Retinitis pigmentosa-deafness syndrome type 3
en Retinitis pigmentosa-deafness syndrome type 3 (disorder)
en Usher syndrome type 3

Expression

1010610007 |Retinitis pigmentosa-deafness syndrome type 3 (disorder)|
 <<< 57838006 |Retinitis pigmentosa-deafness syndrome (disorder)| : 
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 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)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4279327013 - Retinitis pigmentosa-deafness syndrome type 3 (en) View
4279327013	en	Synonym (core metadata concept)	Retinitis pigmentosa-deafness syndrome type 3	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4279326016 - Retinitis pigmentosa-deafness syndrome type 3 (disorder) (en) View
4279326016	en	Fully specified name (core metadata concept)	Retinitis pigmentosa-deafness syndrome type 3 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4213324014 - Usher syndrome type 3 (en) View
4213324014	en	Synonym (core metadata concept)	Usher syndrome type 3	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13263498028) - 1010610007 -> 57838006 (116680003) View
116680003 \|Is a (attribute)\|	57838006 \|Retinitis pigmentosa-deafness syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13263499020) - 1010610007 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13263500027) - 1010610007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13263501028) - 1010610007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13263502024) - 1010610007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13263503025) - 1010610007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13263504020) - 1010610007 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13263505021) - 1010610007 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13263506022) - 1010610007 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
57838006 View
57838006	Retinitis pigmentosa-deafness syndrome (disorder)	Usher syndrome	900000000000074008 \|Necessary but not sufficient concept 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 (103a9969-b33a-532e-b822-01ed606fcff3) 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)\|

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