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Terminology chevron_right Concepts chevron_right 69278003

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Component

69278003

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital aniridia (disorder)

Shortest Term

Aniridia

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 aniridia (disorder)

SCTID: 69278003, Defined, Active

69278003|Congenital aniridia (disorder)|

en Agenesis of iris
en Aniridia
en Aplasia of iris
en Congenital absence of iris
en Congenital aniridia
en Congenital aniridia (disorder)
en Irideraemia
en Irideremia

Expression

69278003 |Congenital aniridia (disorder)|
 === 128985003 |Congenital anomaly of iris (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
501243017 - Agenesis of iris (en) View
501243017	en	Synonym (core metadata concept)	Agenesis of iris	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
115057018 - Aniridia (en) View
115057018	en	Synonym (core metadata concept)	Aniridia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1495404012 - Aplasia of iris (en) View
1495404012	en	Synonym (core metadata concept)	Aplasia of iris	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501244011 - Congenital absence of iris (en) View
501244011	en	Synonym (core metadata concept)	Congenital absence of iris	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2576125014 - Congenital aniridia (en) View
2576125014	en	Synonym (core metadata concept)	Congenital aniridia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2572271010 - Congenital aniridia (disorder) (en) View
2572271010	en	Fully specified name (core metadata concept)	Congenital aniridia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
501245012 - Irideraemia (en) View
501245012	en	Synonym (core metadata concept)	Irideraemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
115058011 - Irideremia (en) View
115058011	en	Synonym (core metadata concept)	Irideremia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
809205016 - Aniridia (disorder) (en) View
809205016	en	Fully specified name (core metadata concept)	Aniridia (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (541043020) - 69278003 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4976094022) - 69278003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995219022) - 69278003 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5037128025) - 69278003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5973334025) - 69278003 -> 702626005 (116680003) View
116680003 \|Is a (attribute)\|	702626005 \|Congenital absence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6084446025) - 69278003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521184020) - 69278003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151386029) - 69278003 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2695810023) - 69278003 -> 204099004 (116680003) View
116680003 \|Is a (attribute)\|	204099004 \|Agenesis of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (846844028) - 69278003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3389823027) - 69278003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3468578029) - 69278003 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (846843023) - 69278003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2230539022) - 69278003 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (846840021) - 69278003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2039877025) - 69278003 -> 272647005 (363698007) View
363698007 \|Finding site (attribute)\|	272647005 \|Iridial and/or ciliary structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (846841020) - 69278003 -> 272647005 (363698007) View
363698007 \|Finding site (attribute)\|	272647005 \|Iridial and/or ciliary structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (846842029) - 69278003 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (260765020) - 69278003 -> 128985003 (116680003) View
116680003 \|Is a (attribute)\|	128985003 \|Congenital anomaly of iris (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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
15986951000119103 View
15986951000119103	Congenital aniridia of right eye (disorder)	Congenital aniridia of right eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
15986991000119108 View
15986991000119108	Congenital aniridia of left eye (disorder)	Congenital aniridia of left eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
733116005 View
733116005	Aniridia, renal agenesis, psychomotor retardation syndrome (disorder)	Sommer rathbun battles syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720467005 View
720467005	Aniridia and absent patella syndrome (disorder)	Aniridia and absent patella syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720468000 View
720468000	Aniridia and intellectual disability syndrome (disorder)	Aniridia and intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720987001 View
720987001	Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)	Aniridia, ptosis, intellectual disability, familial obesity syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253176002 View
253176002	Gillespie syndrome (disorder)	Gillespie syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253231007 View
253231007	Aniridia type 1 (disorder)	An1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253232000 View
253232000	Aniridia type 2 (disorder)	An2	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 (45049e4e-4aa5-55f8-b276-be9d24519f13) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	IFA 4135001 \| 11p partial monosomy syndrome (disorder) \|	IF 11P PARTIAL MONOSOMY SYNDROME CHOOSE Q87.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (95cfe524-e8c1-54bb-8a9b-359ab6d0583b) 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)\|
ExtendedMap object (b40eb8e6-a85d-58e9-b1b2-fb1a041b6f3e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q13.1	OTHERWISE 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)\|
ExtendedMap object (c0b9e883-2e60-5f22-8d27-49649e7da327) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	IFA 231956007 \| Traumatic aniridia (disorder) \|	SOURCE SNOMED CONCEPT IS AMBIGUOUS	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447640006 \|Source snomed concept is ambiguous (foundation metadata concept)\|
ExtendedMap object (dd2a0911-678f-5d77-8ea5-4ce5cd4cb6e7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.5	IFA 702346005 \| Chromosome 11p11.2 deletion syndrome (disorder) \|	IF CHROMOSOME 11P11.2 DELETION SYNDROME CHOOSE Q93.5 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|

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