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Terminology chevron_right Concepts chevron_right 722019000

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Component

722019000

The component that hold information about this concept.

Fully Specified Name (FSN)

Oculootoradial syndrome (disorder)

Shortest Term

Ivic 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

Oculootoradial syndrome (disorder)

SCTID: 722019000, Primitive, Active

722019000|Oculootoradial syndrome (disorder)|

en Oculo-oto-radial syndrome
en Oculootoradial syndrome
en Oculootoradial syndrome (disorder)
en Ivic (instituto venezolano de investigaciones cientificas) syndrome
en Ivic syndrome

Expression

722019000 |Oculootoradial syndrome (disorder)|
 <<< 788953003 |Hereditary hearing loss (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
66510004 |Congenital anomaly of upper limb (disorder)| + 
109420003 |Dysostosis (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
194429000 |Mixed conductive and sensorineural hearing loss, bilateral (disorder)| + 
737377004 |Congenital mixed conductive and sensorineural hearing loss (disorder)| + 
88631000119105 |Congenital dysplasia of limb (disorder)| + 
897403002 |Structural abnormality of upper limb bone (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 371195002 |Bone structure of upper limb (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25577004 |Right ear structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 89644007 |Left ear structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3330146010 - Oculo-oto-radial syndrome (en) View
3330146010	en	Synonym (core metadata concept)	Oculo-oto-radial syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3330145014 - Oculootoradial syndrome (en) View
3330145014	en	Synonym (core metadata concept)	Oculootoradial syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3330144013 - Oculootoradial syndrome (disorder) (en) View
3330144013	en	Fully specified name (core metadata concept)	Oculootoradial syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3325063017 - IVIC (Instituto Venezolano de Investigaciones Cientificas) syndrome (en) View
3325063017	en	Synonym (core metadata concept)	IVIC (Instituto Venezolano de Investigaciones Cientificas) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3330147018 - IVIC syndrome (en) View
3330147018	en	Synonym (core metadata concept)	IVIC syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6778693022) - 722019000 -> 298756009 (116680003) View
116680003 \|Is a (attribute)\|	298756009 \|Finding of bone of upper limb (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778694027) - 722019000 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16355601025) - 722019000 -> 897403002 (116680003) View
116680003 \|Is a (attribute)\|	897403002 \|Structural abnormality of upper limb bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16374429027) - 722019000 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681435024) - 722019000 -> 88631000119105 (116680003) View
116680003 \|Is a (attribute)\|	88631000119105 \|Congenital dysplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778691024) - 722019000 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778697023) - 722019000 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778701021) - 722019000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015494023) - 722019000 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015498021) - 722019000 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015499029) - 722019000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015507020) - 722019000 -> 194429000 (116680003) View
116680003 \|Is a (attribute)\|	194429000 \|Mixed conductive and sensorineural hearing loss, bilateral (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015508026) - 722019000 -> 737377004 (116680003) View
116680003 \|Is a (attribute)\|	737377004 \|Congenital mixed conductive and sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015509023) - 722019000 -> 89644007 (363698007) View
363698007 \|Finding site (attribute)\|	89644007 \|Left ear structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015510029) - 722019000 -> 25577004 (363698007) View
363698007 \|Finding site (attribute)\|	25577004 \|Right ear structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069349026) - 722019000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778698029) - 722019000 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532030029) - 722019000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226068022) - 722019000 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778695026) - 722019000 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778699021) - 722019000 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778700022) - 722019000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6778702025) - 722019000 -> 371195002 (363698007) View
363698007 \|Finding site (attribute)\|	371195002 \|Bone structure of upper limb (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10532029023) - 722019000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532031025) - 722019000 -> 371195002 (363698007) View
363698007 \|Finding site (attribute)\|	371195002 \|Bone structure of upper limb (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532032021) - 722019000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778688024) - 722019000 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778689027) - 722019000 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778690020) - 722019000 -> 66510004 (116680003) View
116680003 \|Is a (attribute)\|	66510004 \|Congenital anomaly of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778692028) - 722019000 -> 109420003 (116680003) View
116680003 \|Is a (attribute)\|	109420003 \|Dysostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6778696025) - 722019000 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	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
897403002 View
897403002	Structural abnormality of upper limb bone (disorder)	Abnormal upper limb bone morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
88631000119105 View
88631000119105	Congenital dysplasia of limb (disorder)	Congenital dysplasia of limb	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
737377004 View
737377004	Congenital mixed conductive and sensorineural hearing loss (disorder)	Congenital mixed conductive and sensorineural hearing loss	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
66510004 View
66510004	Congenital anomaly of upper limb (disorder)	Congenital anomaly of upper limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
109420003 View
109420003	Dysostosis (disorder)	Dysostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
194429000 View
194429000	Mixed conductive and sensorineural hearing loss, bilateral (disorder)	Mixed conductive and sensorineural hearing loss, bilateral	900000000000074008 \|Necessary but not sufficient concept 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
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal 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 (b58df630-ec37-5147-ad0f-6603e859b0cb) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q71.8	TRUE	ALWAYS Q71.8 \| 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 (ce79e579-4934-52f3-a392-10e7324fd887) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2 \| 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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