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Terminology chevron_right Concepts chevron_right 1228871002

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Component

1228871002

The component that hold information about this concept.

Fully Specified Name (FSN)

Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)

Shortest Term

Pcna-related progressive neurodegenerative photosensitivity 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

Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)

SCTID: 1228871002, Primitive, Active

1228871002|Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)|

en Pcna-related progressive neurodegenerative photosensitivity syndrome
en Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome
en Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)

Expression

1228871002 |Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)|
 <<< 103276001 |Decreased hearing (finding)| + 
128283000 |Chronic nervous system disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
700453005 |Congenital sensorineural hearing loss (disorder)| + 
95477007 |Congenital degeneration of nervous system (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 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
5063531018 - PCNA-related progressive neurodegenerative photosensitivity syndrome (en) View
5063531018	en	Synonym (core metadata concept)	PCNA-related progressive neurodegenerative photosensitivity syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5063532013 - Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (en) View
5063532013	en	Synonym (core metadata concept)	Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5063533015 - Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) (en) View
5063533015	en	Fully specified name (core metadata concept)	Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15212053020) - 1228871002 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374497021) - 1228871002 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212050023) - 1228871002 -> 103276001 (116680003) View
116680003 \|Is a (attribute)\|	103276001 \|Decreased hearing (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212051022) - 1228871002 -> 128283000 (116680003) View
116680003 \|Is a (attribute)\|	128283000 \|Chronic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212054025) - 1228871002 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212056028) - 1228871002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212057021) - 1228871002 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212058027) - 1228871002 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212059024) - 1228871002 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212060025) - 1228871002 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212061026) - 1228871002 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212062022) - 1228871002 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212063028) - 1228871002 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212064023) - 1228871002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212065024) - 1228871002 -> 700453005 (116680003) View
116680003 \|Is a (attribute)\|	700453005 \|Congenital sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212066020) - 1228871002 -> 95477007 (116680003) View
116680003 \|Is a (attribute)\|	95477007 \|Congenital degeneration of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212067027) - 1228871002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212068021) - 1228871002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212069029) - 1228871002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	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
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
103276001 View
103276001	Decreased hearing (finding)	Nghe kém	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
95477007 View
95477007	Congenital degeneration of nervous system (disorder)	Congenital neurological degeneration	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128283000 View
128283000	Chronic nervous system disorder (disorder)	Chronic nervous system disease	900000000000073002 \|Sufficiently defined by necessary conditions 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
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous 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 (b9fdd981-2bdc-501b-96a8-cb23be32c9a6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.3	TRUE	ALWAYS G11.3 \| 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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