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Terminology chevron_right Concepts chevron_right 698851003

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Component

698851003

The component that hold information about this concept.

Fully Specified Name (FSN)

Sox2 anophthalmia syndrome (disorder)

Shortest Term

Sox2-related eye disorder

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

Sox2 anophthalmia syndrome (disorder)

SCTID: 698851003, Primitive, Active

698851003|Sox2 anophthalmia syndrome (disorder)|

en Anophthalmia-esophageal-genital syndrome
en Syndromic microphthalmia 3
en Aeg - anophthalmia-esophageal-genital syndrome
en Sox2 anophthalmia syndrome
en Sox2 anophthalmia syndrome (disorder)
en Sox2-related eye disorder

Expression

698851003 |Sox2 anophthalmia syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
19416009 |Congenital anomaly of eye (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1303834006 |Abnormal smallness (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 81745001 |Structure of eye proper (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
2981470016 - Anophthalmia-esophageal-genital syndrome (en) View
2981470016	en	Synonym (core metadata concept)	Anophthalmia-esophageal-genital syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2981469017 - Syndromic microphthalmia 3 (en) View
2981469017	en	Synonym (core metadata concept)	Syndromic microphthalmia 3	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2981433013 - AEG - anophthalmia-esophageal-genital syndrome (en) View
2981433013	en	Synonym (core metadata concept)	AEG - anophthalmia-esophageal-genital syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2981457013 - SOX2 anophthalmia syndrome (en) View
2981457013	en	Synonym (core metadata concept)	SOX2 anophthalmia syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2981482013 - SOX2 anophthalmia syndrome (disorder) (en) View
2981482013	en	Fully specified name (core metadata concept)	SOX2 anophthalmia syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2981485010 - SOX2-related eye disorder (en) View
2981485010	en	Synonym (core metadata concept)	SOX2-related eye disorder	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10517668027) - 698851003 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15898826029) - 698851003 -> 1303834006 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303834006 \|Abnormal smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069789023) - 698851003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4982083026) - 698851003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4982085022) - 698851003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6539803025) - 698851003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6539804020) - 698851003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6553692027) - 698851003 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517669024) - 698851003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4770191020) - 698851003 -> 7183006 (116680003) View
116680003 \|Is a (attribute)\|	7183006 \|Anophthalmos (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4770193023) - 698851003 -> 363654007 (363698007) View
363698007 \|Finding site (attribute)\|	363654007 \|Structure of orbit proper (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4770194028) - 698851003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4770195027) - 698851003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4982084021) - 698851003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6539801028) - 698851003 -> 19416009 (116680003) View
116680003 \|Is a (attribute)\|	19416009 \|Congenital anomaly of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4770192029) - 698851003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4770189028) - 698851003 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4770190021) - 698851003 -> 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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	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
19416009 View
19416009	Congenital anomaly of eye (disorder)	Dị tật bẩm sinh của mắt	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 (139278f6-482d-5c71-a0b2-7776367e2327) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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 (343a044a-0966-54d8-8699-f713972cc643) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0	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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