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Terminology chevron_right Concepts chevron_right 720749004

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Component

720749004

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)

Shortest Term

Harboyan 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 hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)

SCTID: 720749004, Primitive, Active

720749004|Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)|

en Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
en Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)
en Corneal dystrophy and perceptive deafness syndrome
en Corneal dystrophy with progressive deafness
en Harboyan syndrome

Expression

720749004 |Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)|
 <<< 788953003 |Hereditary hearing loss (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
1003408005 |Congenital dystrophy of cornea (disorder)| + 
417651000 |Congenital hereditary endothelial dystrophy (disorder)| + 
60700002 |Sensorineural hearing loss (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25610001 |Chromosome pair 20 (cell 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)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 65431007 |Structure of corneal endothelium (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3322601011 - Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (en) View
3322601011	en	Synonym (core metadata concept)	Congenital hereditary endothelial dystrophy and perceptive deafness syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3322600012 - Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) (en) View
3322600012	en	Fully specified name (core metadata concept)	Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3321984017 - Corneal dystrophy and perceptive deafness syndrome (en) View
3321984017	en	Synonym (core metadata concept)	Corneal dystrophy and perceptive deafness syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3321985016 - Corneal dystrophy with progressive deafness (en) View
3321985016	en	Synonym (core metadata concept)	Corneal dystrophy with progressive deafness	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3321986015 - Harboyan syndrome (en) View
3321986015	en	Synonym (core metadata concept)	Harboyan syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6687501028) - 720749004 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374417020) - 720749004 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687497022) - 720749004 -> 77797009 (116680003) View
116680003 \|Is a (attribute)\|	77797009 \|Hereditary corneal dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687499020) - 720749004 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687502024) - 720749004 -> 416960004 (116680003) View
116680003 \|Is a (attribute)\|	416960004 \|Corneal endothelial dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14015486027) - 720749004 -> 1003408005 (116680003) View
116680003 \|Is a (attribute)\|	1003408005 \|Congenital dystrophy of cornea (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015487020) - 720749004 -> 417651000 (116680003) View
116680003 \|Is a (attribute)\|	417651000 \|Congenital hereditary endothelial dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015488026) - 720749004 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015489023) - 720749004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015490025) - 720749004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015491026) - 720749004 -> 25610001 (363698007) View
363698007 \|Finding site (attribute)\|	25610001 \|Chromosome pair 20 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015492022) - 720749004 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14015493028) - 720749004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687503025) - 720749004 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091209025) - 720749004 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687504020) - 720749004 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687505021) - 720749004 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687496029) - 720749004 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687498028) - 720749004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687500027) - 720749004 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687506022) - 720749004 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687507029) - 720749004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687508023) - 720749004 -> 65431007 (363698007) View
363698007 \|Finding site (attribute)\|	65431007 \|Structure of corneal endothelium (body structure)\|	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
1003408005 View
1003408005	Congenital dystrophy of cornea (disorder)	Congenital corneal dystrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
417651000 View
417651000	Congenital hereditary endothelial dystrophy (disorder)	Congenital hereditary endothelial dystrophy	900000000000074008 \|Necessary but not sufficient concept 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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

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 (c090cfa4-ae0c-50ad-a032-a889195a38e7) 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 (eb7f1f76-cc51-5db2-86fd-61822eb71431) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H18.5	TRUE	ALWAYS H18.5 \| 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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