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Terminology chevron_right Concepts chevron_right 445257004

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Component

445257004

The component that hold information about this concept.

Fully Specified Name (FSN)

Nance-horan syndrome (disorder)

Shortest Term

Nance-horan 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

Nance-horan syndrome (disorder)

SCTID: 445257004, Primitive, Active

445257004|Nance-horan syndrome (disorder)|

en Nance-horan syndrome
en Nance-horan syndrome (disorder)

Expression

445257004 |Nance-horan syndrome (disorder)|
 <<< 422977003 |Congenital anomaly of tooth (disorder)| + 
79410001 |Congenital cataract (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1148766007 |Hereditary disorder of tooth (disorder)| + 
1162984000 |X-linked dominant hereditary disease (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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 38199008 |Tooth structure (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
2870953018 - Nance-Horan syndrome (en) View
2870953018	en	Synonym (core metadata concept)	Nance-Horan syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2869734014 - Nance-Horan syndrome (disorder) (en) View
2869734014	en	Fully specified name (core metadata concept)	Nance-Horan syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3774574028) - 445257004 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14015429021) - 445257004 -> 1162984000 (116680003) View
116680003 \|Is a (attribute)\|	1162984000 \|X-linked dominant hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3774569020) - 445257004 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989328025) - 445257004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13717813024) - 445257004 -> 1148766007 (116680003) View
116680003 \|Is a (attribute)\|	1148766007 \|Hereditary disorder of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13723121029) - 445257004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069696027) - 445257004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3790989027) - 445257004 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3790991024) - 445257004 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020088022) - 445257004 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5021622025) - 445257004 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5118644026) - 445257004 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6569615022) - 445257004 -> 128306009 (116676008) View
116676008 \|Associated morphology (attribute)\|	128306009 \|Cataract (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524093024) - 445257004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4734389024) - 445257004 -> 609587005 (116676008) View
116676008 \|Associated morphology (attribute)\|	609587005 \|Congenital cataract (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979344028) - 445257004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989327024) - 445257004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5000378023) - 445257004 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5118642027) - 445257004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524094029) - 445257004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524095028) - 445257004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3774575027) - 445257004 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4734390026) - 445257004 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3774573023) - 445257004 -> 95473006 (116680003) View
116680003 \|Is a (attribute)\|	95473006 \|Congenital anomaly of jaw (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3778343020) - 445257004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3778345029) - 445257004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3778346028) - 445257004 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979343023) - 445257004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3778344025) - 445257004 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3790990020) - 445257004 -> 16301006 (116676008) View
116676008 \|Associated morphology (attribute)\|	16301006 \|Congenital opacity (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3774570021) - 445257004 -> 422977003 (116680003) View
116680003 \|Is a (attribute)\|	422977003 \|Congenital anomaly of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3774571020) - 445257004 -> 79410001 (116680003) View
116680003 \|Is a (attribute)\|	79410001 \|Congenital cataract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3774572029) - 445257004 -> 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
1162984000 View
1162984000	X-linked dominant hereditary disease (disorder)	X-linked dominant hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1148766007 View
1148766007	Hereditary disorder of tooth (disorder)	Hereditary disorder of tooth	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
422977003 View
422977003	Congenital anomaly of tooth (disorder)	Congenital anomaly of tooth	900000000000073002 \|Sufficiently defined by necessary conditions 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
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 (ffd7e664-cb6c-58fa-98a6-7b9c5e47f3a2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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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