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Terminology chevron_right Concepts chevron_right 44295002

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Component

44295002

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital coloboma of optic disc (disorder)

Shortest Term

Coloboma of optic disc

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital coloboma of optic disc (disorder)

SCTID: 44295002, Defined, Active

44295002|Congenital coloboma of optic disc (disorder)|

en Congenital coloboma of optic disc
en Congenital coloboma of optic disc (disorder)
en Congenital optic disc coloboma

Expression

44295002 |Congenital coloboma of optic disc (disorder)|
 === 299735001 |Neurological lesion (finding)| + 
39302008 |Fundus coloboma (disorder)| + 
60505005 |Congenital anomaly of optic disc (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 81016008 |Optic disc 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
73884017 - Congenital coloboma of optic disc (en) View
73884017	en	Synonym (core metadata concept)	Congenital coloboma of optic disc	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
781406016 - Congenital coloboma of optic disc (disorder) (en) View
781406016	en	Fully specified name (core metadata concept)	Congenital coloboma of optic disc (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
493844018 - Congenital optic disc coloboma (en) View
493844018	en	Synonym (core metadata concept)	Congenital optic disc coloboma	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
493845017 - Coloboma of optic disc (en) View
493845017	en	Synonym (core metadata concept)	Coloboma of optic disc	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
2620797014 - Coloboma of optic nerve (en) View
2620797014	en	Synonym (core metadata concept)	Coloboma of optic nerve	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10530032027) - 44295002 -> 230764002 (116680003) View
116680003 \|Is a (attribute)\|	230764002 \|Congenital and developmental anomalies of the nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (220154021) - 44295002 -> 17541006 (116680003) View
116680003 \|Is a (attribute)\|	17541006 \|Coloboma of optic disc (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (517250029) - 44295002 -> 81016008 (363698007) View
363698007 \|Finding site (attribute)\|	81016008 \|Optic disc structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2692279029) - 44295002 -> 93390002 (116680003) View
116680003 \|Is a (attribute)\|	93390002 \|Congenital ocular coloboma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976427025) - 44295002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976428024) - 44295002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5013019020) - 44295002 -> 81016008 (363698007) View
363698007 \|Finding site (attribute)\|	81016008 \|Optic disc structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5937073028) - 44295002 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6233856026) - 44295002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6939566029) - 44295002 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6939567022) - 44295002 -> 81016008 (363698007) View
363698007 \|Finding site (attribute)\|	81016008 \|Optic disc structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6939568028) - 44295002 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9532263024) - 44295002 -> 40024006 (116680003) View
116680003 \|Is a (attribute)\|	40024006 \|Retinal defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10530027028) - 44295002 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530033021) - 44295002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10744640029) - 44295002 -> 39302008 (116680003) View
116680003 \|Is a (attribute)\|	39302008 \|Fundus coloboma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10744641025) - 44295002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9532264029) - 44295002 -> 299735001 (116680003) View
116680003 \|Is a (attribute)\|	299735001 \|Neurological lesion (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3347950028) - 44295002 -> 4541003 (116676008) View
116676008 \|Associated morphology (attribute)\|	4541003 \|Congenital failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3347951029) - 44295002 -> 81016008 (363698007) View
363698007 \|Finding site (attribute)\|	81016008 \|Optic disc structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976424021) - 44295002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5013017022) - 44295002 -> 4541003 (116676008) View
116676008 \|Associated morphology (attribute)\|	4541003 \|Congenital failure of fusion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5013018028) - 44295002 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3347952020) - 44295002 -> 6920004 (116676008) View
116676008 \|Associated morphology (attribute)\|	6920004 \|Defect (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3459435025) - 44295002 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (782738020) - 44295002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (782742023) - 44295002 -> 4541003 (116676008) View
116676008 \|Associated morphology (attribute)\|	4541003 \|Congenital failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2732911028) - 44295002 -> 6920004 (116676008) View
116676008 \|Associated morphology (attribute)\|	6920004 \|Defect (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2732912024) - 44295002 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (782745020) - 44295002 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2732913025) - 44295002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (782740026) - 44295002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2228159024) - 44295002 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (220153026) - 44295002 -> 60505005 (116680003) View
116680003 \|Is a (attribute)\|	60505005 \|Congenital anomaly of optic disc (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
39302008 View
39302008	Fundus coloboma (disorder)	Fundus coloboma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
299735001 View
299735001	Neurological lesion (finding)	Neurological lesion	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
60505005 View
60505005	Congenital anomaly of optic disc (disorder)	Optic disc anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1179296003 View
1179296003	Colobomatous macrophthalmia with microcornea syndrome (disorder)	Colobomatous macrophthalmia with microcornea syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
15986151000119100 View
15986151000119100	Congenital coloboma of right optic disc (disorder)	Congenital coloboma of right optic disc	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
15986191000119105 View
15986191000119105	Congenital coloboma of left optic disc (disorder)	Congenital coloboma of left optic disc	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (4b81033b-0fb7-5863-9b0e-10d4ada05a8e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q14.2	TRUE	ALWAYS Q14.2	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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