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Terminology chevron_right Concepts chevron_right 73119000

Production

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Component

73119000

The component that hold information about this concept.

Fully Specified Name (FSN)

Retinitis pigmentosa-deafness-ataxia syndrome (disorder)

Shortest Term

Hallgren's 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-ataxia syndrome (disorder)

SCTID: 73119000, Primitive, Active

73119000|Retinitis pigmentosa-deafness-ataxia syndrome (disorder)|

en Retinitis pigmentosa-deafness-ataxia syndrome
en Retinitis pigmentosa-deafness-ataxia syndrome (disorder)
en Hallgren's syndrome

Expression

73119000 |Retinitis pigmentosa-deafness-ataxia syndrome (disorder)|
 <<< 57838006 |Retinitis pigmentosa-deafness syndrome (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
121439016 - Retinitis pigmentosa-deafness-ataxia syndrome (en) View
121439016	en	Synonym (core metadata concept)	Retinitis pigmentosa-deafness-ataxia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
813472015 - Retinitis pigmentosa-deafness-ataxia syndrome (disorder) (en) View
813472015	en	Fully specified name (core metadata concept)	Retinitis pigmentosa-deafness-ataxia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
121440019 - Hallgren's syndrome (en) View
121440019	en	Synonym (core metadata concept)	Hallgren's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (7341003021) - 73119000 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7341004026) - 73119000 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578396020) - 73119000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578397027) - 73119000 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341005025) - 73119000 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7341006029) - 73119000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529241027) - 73119000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529242023) - 73119000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341007022) - 73119000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (856178028) - 73119000 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5049311025) - 73119000 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5049312021) - 73119000 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (266992025) - 73119000 -> 57838006 (116680003) View
116680003 \|Is a (attribute)\|	57838006 \|Retinitis pigmentosa-deafness syndrome (disorder)\|	0	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 (35c91e02-bb08-53ec-9e05-2b15185ce20e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.1	TRUE	ALWAYS G11.1	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 (d92a206c-97db-50ca-bcdc-09286f707478) 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 (f69ac66a-65ab-5c7b-9535-eb6331469930) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H35.5	TRUE	ALWAYS H35.5	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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