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Terminology chevron_right Concepts chevron_right 51485001

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Component

51485001

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital coloboma of iris

Shortest Term

Cleft iris

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 iris

SCTID: 51485001, Defined, Active

51485001|Congenital coloboma of iris|

en Cleft iris
en Congenital coloboma of iris
en Congenital coloboma of iris (disorder)
en Notched iris

Expression

51485001 |Congenital coloboma of iris|
 === 128985003 |Congenital anomaly of iris (disorder)| + 
117831000119104 |Lesion of iris (disorder)| + 
93390002 |Congenital ocular coloboma (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 41296002 |Iris 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
3497054012 - Cleft iris (en) View
3497054012	en	Synonym (core metadata concept)	Cleft iris	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
85750017 - Congenital coloboma of iris (en) View
85750017	en	Synonym (core metadata concept)	Congenital coloboma of iris	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
789389011 - Congenital coloboma of iris (en) View
789389011	en	Fully specified name (core metadata concept)	Congenital coloboma of iris	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
2717579017 - Congenital coloboma of iris (disorder) (en) View
2717579017	en	Fully specified name (core metadata concept)	Congenital coloboma of iris (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3497055013 - Notched iris (en) View
3497055013	en	Synonym (core metadata concept)	Notched iris	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10524823026) - 51485001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9534481024) - 51485001 -> 117831000119104 (116680003) View
116680003 \|Is a (attribute)\|	117831000119104 \|Lesion of iris (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6875909028) - 51485001 -> 93390002 (116680003) View
116680003 \|Is a (attribute)\|	93390002 \|Congenital ocular coloboma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6875910022) - 51485001 -> 128985003 (116680003) View
116680003 \|Is a (attribute)\|	128985003 \|Congenital anomaly of iris (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6875912025) - 51485001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6875913024) - 51485001 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6939579022) - 51485001 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
117831000119104 View
117831000119104	Lesion of iris (disorder)	Iris lesion	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
128985003 View
128985003	Congenital anomaly of iris (disorder)	Congenital anomaly of iris	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
1172636006 View
1172636006	Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)	Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717887003 View
717887003	Biemond syndrome type 2 (disorder)	Biemond syndrome type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719042007 View
719042007	Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)	Uveal coloboma with cleft lip and palate and intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722282008 View
722282008	Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Graham cox 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 (a2aaa336-6004-54ee-aeb4-8206eacf5816) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q13.0	TRUE	ALWAYS Q13.0	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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