dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 783562005

Production

add

Component

783562005

The component that hold information about this concept.

Fully Specified Name (FSN)

Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)

Shortest Term

Syndactyly, nystagmus syndrome due to trisomy 2q31.1

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

Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)

SCTID: 783562005, Primitive, Active

783562005|Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)|

en Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
en Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)
en Syndactyly, nystagmus syndrome due to trisomy 2q31.1

Expression

783562005 |Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)|
 <<< 64635004 |Congenital nystagmus (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
782964007 |Genetic disease (disorder)| + 
373413006 |Syndactyly (disorder)| + 
35743001 |Pendular nystagmus (disorder)| + 
5982001 |2q partial trisomy syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113354003 |Chromosome pair 2 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 1297033003 |Abnormally fused structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 82680008 |Digit structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 371398005 |Eye region structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 31763002 |Ocular motility observable (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3759359017 - Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (en) View
3759359017	en	Synonym (core metadata concept)	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3759361014 - Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder) (en) View
3759361014	en	Fully specified name (core metadata concept)	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3759358013 - Syndactyly, nystagmus syndrome due to trisomy 2q31.1 (en) View
3759358013	en	Synonym (core metadata concept)	Syndactyly, nystagmus syndrome due to trisomy 2q31.1	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11309001021) - 783562005 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15840453021) - 783562005 -> 1297033003 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297033003 \|Abnormally fused structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11308999020) - 783562005 -> 35743001 (116680003) View
116680003 \|Is a (attribute)\|	35743001 \|Pendular nystagmus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309002025) - 783562005 -> 64635004 (116680003) View
116680003 \|Is a (attribute)\|	64635004 \|Congenital nystagmus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309004029) - 783562005 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309005028) - 783562005 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309006027) - 783562005 -> 5982001 (116680003) View
116680003 \|Is a (attribute)\|	5982001 \|2q partial trisomy syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309007020) - 783562005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309008026) - 783562005 -> 373413006 (116680003) View
116680003 \|Is a (attribute)\|	373413006 \|Syndactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309010029) - 783562005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309012021) - 783562005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309013027) - 783562005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309014022) - 783562005 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573313026) - 783562005 -> 371398005 (363698007) View
363698007 \|Finding site (attribute)\|	371398005 \|Eye region structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573314021) - 783562005 -> 31763002 (363714003) View
363714003 \|Interprets (attribute)\|	31763002 \|Ocular motility observable (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573315022) - 783562005 -> 113354003 (363698007) View
363698007 \|Finding site (attribute)\|	113354003 \|Chromosome pair 2 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573316023) - 783562005 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
64635004 View
64635004	Congenital nystagmus (disorder)	Congenital nystagmus	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
373413006 View
373413006	Syndactyly (disorder)	Syndactyly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
5982001 View
5982001	2q partial trisomy syndrome (disorder)	2q partial trisomy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
35743001 View
35743001	Pendular nystagmus (disorder)	Pendular nystagmus	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	900000000000074008 \|Necessary but not sufficient concept 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 (70078318-d3b7-5d31-9c62-a9230adeefa7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.3	TRUE	ALWAYS Q92.3	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)\|

Terminology chevron_right Concepts chevron_right 783562005

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches