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Terminology chevron_right Concepts chevron_right 253231007

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Component

253231007

The component that hold information about this concept.

Fully Specified Name (FSN)

Aniridia type 1 (disorder)

Shortest Term

An1

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

Aniridia type 1 (disorder)

SCTID: 253231007, Primitive, Active

253231007|Aniridia type 1 (disorder)|

en Aniridia type 1
en Aniridia type 1 (disorder)
en An1

Expression

253231007 |Aniridia type 1 (disorder)|
 <<< 69278003 |Congenital aniridia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (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
377133017 - Aniridia type 1 (en) View
377133017	en	Synonym (core metadata concept)	Aniridia type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
643965018 - Aniridia type 1 (disorder) (en) View
643965018	en	Fully specified name (core metadata concept)	Aniridia type 1 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
377134011 - AN1 (en) View
377134011	en	Synonym (core metadata concept)	AN1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (471724029) - 253231007 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4976224024) - 253231007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995248027) - 253231007 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5037130028) - 253231007 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527960021) - 253231007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527961020) - 253231007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151607029) - 253231007 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (568814025) - 253231007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3352210023) - 253231007 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3352211022) - 253231007 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (471722025) - 253231007 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (568816028) - 253231007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1954899024) - 253231007 -> 272647005 (363698007) View
363698007 \|Finding site (attribute)\|	272647005 \|Iridial and/or ciliary structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (568813020) - 253231007 -> 272647005 (363698007) View
363698007 \|Finding site (attribute)\|	272647005 \|Iridial and/or ciliary structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (568815029) - 253231007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (73108026) - 253231007 -> 69278003 (116680003) View
116680003 \|Is a (attribute)\|	69278003 \|Congenital aniridia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
69278003 View
69278003	Congenital aniridia (disorder)	Aniridia	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 (d87f1615-4cb2-5617-bdd3-3fe5ec197f49) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q13.1	TRUE	ALWAYS Q13.1	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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