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Terminology chevron_right Concepts chevron_right 719102004

Production

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Language with ID “6418ab75-e00a-4d78-8f5c-41f6fc690615” doesn’t exist. Perhaps it was deleted?

Component

719102004

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital cataract with ataxia and deafness syndrome (disorder)

Shortest Term

Congenital cataract with ataxia and deafness 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

Congenital cataract with ataxia and deafness syndrome (disorder)

SCTID: 719102004, Primitive, Active

719102004|Congenital cataract with ataxia and deafness syndrome (disorder)|

en Congenital cataract with ataxia and deafness syndrome
en Congenital cataract with ataxia and deafness syndrome (disorder)

Expression

719102004 |Congenital cataract with ataxia and deafness syndrome (disorder)|
 <<< 60700002 |Sensorineural hearing loss (disorder)| + 
79410001 |Congenital cataract (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
128283000 |Chronic nervous system disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78076003 |Structure of lens of eye (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3314991019 - Congenital cataract with ataxia and deafness syndrome (en) View
3314991019	en	Synonym (core metadata concept)	Congenital cataract with ataxia and deafness syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3314990018 - Congenital cataract with ataxia and deafness syndrome (disorder) (en) View
3314990018	en	Fully specified name (core metadata concept)	Congenital cataract with ataxia and deafness syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6619284022) - 719102004 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374402021) - 719102004 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9127852022) - 719102004 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316704021) - 719102004 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13618029027) - 719102004 -> 128293007 (116680003) View
116680003 \|Is a (attribute)\|	128293007 \|Chronic mental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15094916020) - 719102004 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094917027) - 719102004 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096281029) - 719102004 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096282020) - 719102004 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619282021) - 719102004 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13618030021) - 719102004 -> 128283000 (116680003) View
116680003 \|Is a (attribute)\|	128283000 \|Chronic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13618031020) - 719102004 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13618032029) - 719102004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069128022) - 719102004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619286024) - 719102004 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12090944025) - 719102004 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619287026) - 719102004 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10750438026) - 719102004 -> 128306009 (116676008) View
116676008 \|Associated morphology (attribute)\|	128306009 \|Cataract (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11343068021) - 719102004 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619288020) - 719102004 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619289028) - 719102004 -> 609587005 (116676008) View
116676008 \|Associated morphology (attribute)\|	609587005 \|Congenital cataract (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619290021) - 719102004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619291020) - 719102004 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516333029) - 719102004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516334024) - 719102004 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516336021) - 719102004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619277025) - 719102004 -> 20262006 (116680003) View
116680003 \|Is a (attribute)\|	20262006 \|Ataxia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619281025) - 719102004 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9142248028) - 719102004 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619278024) - 719102004 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619279027) - 719102004 -> 79410001 (116680003) View
116680003 \|Is a (attribute)\|	79410001 \|Congenital cataract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619280029) - 719102004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619283027) - 719102004 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619285023) - 719102004 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual 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
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	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
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
60700002 View
60700002	Sensorineural hearing loss (disorder)	Mất thính giác	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
79410001 View
79410001	Congenital cataract (disorder)	Congenital cataract	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
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
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (9ebc8614-282e-5781-94b4-ac2cd9e0a08f) 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 (bf8c1bf9-5e36-5fa0-b538-272cf2d93069) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q12.0	TRUE	ALWAYS Q12.0 \| 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 (edcda1fb-c8a1-58f4-ab92-b73765d4c3b3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.2	TRUE	ALWAYS G11.2 \| 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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