dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 717222003

Production

add

Component

717222003

The component that hold information about this concept.

Fully Specified Name (FSN)

Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

Shortest Term

Syndromic microphthalmia type 4

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

Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

SCTID: 717222003, Primitive, Active

717222003|Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)|

en Microphthalmia with ankyloblepharon and intellectual disability syndrome
en Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
en Syndromic microphthalmia type 4

Expression

717222003 |Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)|
 <<< 1362108000 |Genetic intellectual disability (disorder)| + 
253213006 |Congenital ankyloblepharon (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| + 
61142002 |Microphthalmos (disorder)| : 
        { 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)| }
        { 116676008 |Associated morphology (attribute)| = 42685002 |Adhesion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 77024004 |Structure of free margin of eyelid (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3308716017 - Microphthalmia with ankyloblepharon and intellectual disability syndrome (en) View
3308716017	en	Synonym (core metadata concept)	Microphthalmia with ankyloblepharon and intellectual disability syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3308715018 - Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) (en) View
3308715018	en	Fully specified name (core metadata concept)	Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3308717014 - Syndromic microphthalmia type 4 (en) View
3308717014	en	Synonym (core metadata concept)	Syndromic microphthalmia type 4	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9127813026) - 717222003 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316835024) - 717222003 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549040028) - 717222003 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15898925029) - 717222003 -> 1303834006 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303834006 \|Abnormal smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549041029) - 717222003 -> 244486005 (363698007) View
363698007 \|Finding site (attribute)\|	244486005 \|Entire eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15743005026) - 717222003 -> 1290040004 (363698007) View
363698007 \|Finding site (attribute)\|	1290040004 \|Entire eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095231028) - 717222003 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095232024) - 717222003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096595025) - 717222003 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096596029) - 717222003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575015028) - 717222003 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13907801023) - 717222003 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069659020) - 717222003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575020028) - 717222003 -> 77024004 (363698007) View
363698007 \|Finding site (attribute)\|	77024004 \|Structure of free margin of eyelid (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575022020) - 717222003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6576199025) - 717222003 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6576200027) - 717222003 -> 244486005 (363698007) View
363698007 \|Finding site (attribute)\|	244486005 \|Entire eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6576201028) - 717222003 -> 28941001 (116676008) View
116676008 \|Associated morphology (attribute)\|	28941001 \|Congenital adhesion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6576202024) - 717222003 -> 77024004 (363698007) View
363698007 \|Finding site (attribute)\|	77024004 \|Structure of free margin of eyelid (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527043029) - 717222003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527044024) - 717222003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527045020) - 717222003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11104737021) - 717222003 -> 42685002 (116676008) View
116676008 \|Associated morphology (attribute)\|	42685002 \|Adhesion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575014029) - 717222003 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6575013024) - 717222003 -> 61142002 (116680003) View
116680003 \|Is a (attribute)\|	61142002 \|Microphthalmos (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575016027) - 717222003 -> 253213006 (116680003) View
116680003 \|Is a (attribute)\|	253213006 \|Congenital ankyloblepharon (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575017020) - 717222003 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575019023) - 717222003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
61142002 View
61142002	Microphthalmos (disorder)	Small eyeball	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253213006 View
253213006	Congenital ankyloblepharon (disorder)	Fused eyelids	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual system	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 (7459b420-4652-5a32-8aa5-a891b83bb8ed) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q11.2	TRUE	ALWAYS Q11.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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 (904a108d-37e9-5873-bb7f-f37a57f257d3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q10.3	TRUE	ALWAYS Q10.3	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 (c5c77dce-5340-5bb0-8262-f684dfc4fac6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F79.9	TRUE	ALWAYS F79.9	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)\|

Terminology chevron_right Concepts chevron_right 717222003

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches