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Terminology chevron_right Concepts chevron_right 232057003

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Component

232057003

The component that hold information about this concept.

Fully Specified Name (FSN)

Usher syndrome type 1 (disorder)

Shortest Term

Usher syndrome type 1

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

Usher syndrome type 1 (disorder)

SCTID: 232057003, Primitive, Active

232057003|Usher syndrome type 1 (disorder)|

en Usher syndrome type 1
en Usher syndrome type 1 (disorder)

Expression

232057003 |Usher syndrome type 1 (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
347708017 - Usher syndrome type 1 (en) View
347708017	en	Synonym (core metadata concept)	Usher syndrome type 1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
620073019 - Usher syndrome type 1 (disorder) (en) View
620073019	en	Fully specified name (core metadata concept)	Usher syndrome type 1 (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (7341063023) - 232057003 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7341064028) - 232057003 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575863027) - 232057003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575864022) - 232057003 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341065027) - 232057003 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7341066026) - 232057003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522418021) - 232057003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522419029) - 232057003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341067024) - 232057003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (502189026) - 232057003 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5049085020) - 232057003 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5049086021) - 232057003 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (43630023) - 232057003 -> 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
514793471000119104 View
514793471000119104	Usher syndrome type 1f (disorder)	Usher syndrome type 1f	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 (b925ec78-a80f-56ff-8a8b-327b3e97c225) 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)\|
ExtendedMap object (dc8cd73a-6114-537c-8098-a29a7960415d) 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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