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Terminology chevron_right Concepts chevron_right 715771008

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Component

715771008

The component that hold information about this concept.

Fully Specified Name (FSN)

Microphthalmos co-occurrent with congenital ocular coloboma (disorder)

Shortest Term

Colobomatous microphthalmia

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

Microphthalmos co-occurrent with congenital ocular coloboma (disorder)

SCTID: 715771008, Defined, Active

715771008|Microphthalmos co-occurrent with congenital ocular coloboma (disorder)|

en Colobomatous microphthalmia
en Microphthalmia with colobomatous cyst
en Microphthalmos co-occurrent with congenital ocular coloboma
en Microphthalmos co-occurrent with congenital ocular coloboma (disorder)

Expression

715771008 |Microphthalmos co-occurrent with congenital ocular coloboma (disorder)|
 === 61142002 |Microphthalmos (disorder)| + 
93390002 |Congenital ocular coloboma (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (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)| }
        { 116676008 |Associated morphology (attribute)| = 1303834006 |Abnormal smallness (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 1290040004 |Entire 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
3303666015 - Colobomatous microphthalmia (en) View
3303666015	en	Synonym (core metadata concept)	Colobomatous microphthalmia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3303668019 - Microphthalmia with colobomatous cyst (en) View
3303668019	en	Synonym (core metadata concept)	Microphthalmia with colobomatous cyst	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3303667012 - Microphthalmos co-occurrent with congenital ocular coloboma (en) View
3303667012	en	Synonym (core metadata concept)	Microphthalmos co-occurrent with congenital ocular coloboma	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3303665016 - Microphthalmos co-occurrent with congenital ocular coloboma (disorder) (en) View
3303665016	en	Fully specified name (core metadata concept)	Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9202547023) - 715771008 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15898838022) - 715771008 -> 1303834006 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303834006 \|Abnormal smallness (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9202549021) - 715771008 -> 244486005 (363698007) View
363698007 \|Finding site (attribute)\|	244486005 \|Entire eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15742992026) - 715771008 -> 1290040004 (363698007) View
363698007 \|Finding site (attribute)\|	1290040004 \|Entire eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6548596029) - 715771008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6550682023) - 715771008 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6550683029) - 715771008 -> 244486005 (363698007) View
363698007 \|Finding site (attribute)\|	244486005 \|Entire eye (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9202548029) - 715771008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9202550021) - 715771008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224111023) - 715771008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547432025) - 715771008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6547982028) - 715771008 -> 4541003 (116676008) View
116676008 \|Associated morphology (attribute)\|	4541003 \|Congenital failure of fusion (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6547983022) - 715771008 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6940109023) - 715771008 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6940110029) - 715771008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6940111025) - 715771008 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547436027) - 715771008 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6548597022) - 715771008 -> 6920004 (116676008) View
116676008 \|Associated morphology (attribute)\|	6920004 \|Defect (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6547427026) - 715771008 -> 61142002 (116680003) View
116680003 \|Is a (attribute)\|	61142002 \|Microphthalmos (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6547428020) - 715771008 -> 93390002 (116680003) View
116680003 \|Is a (attribute)\|	93390002 \|Congenital ocular coloboma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
61142002 View
61142002	Microphthalmos (disorder)	Small eyeball	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
93390002 View
93390002	Congenital ocular coloboma (disorder)	Coloboma of eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1332382002 View
1332382002	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Commad syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
840492002 View
840492002	Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)	Bilateral colobomatous microphthalmia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
771148008 View
771148008	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
776204008 View
776204008	Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)	Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept 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 (519e0c5c-dcca-58eb-9f14-ab1413ff9e04) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q11.2	TRUE	ALWAYS Q11.2	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)\|
ExtendedMap object (d9c1ca96-38a6-5e58-9fcf-27658842de23) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q13.0	TRUE	ALWAYS Q13.0 \| MAPPED FOLLOWING WHO GUIDANCE	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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