dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 699256006

Production

add

Component

699256006

The component that hold information about this concept.

Fully Specified Name (FSN)

Timothy syndrome type 1 (disorder)

Shortest Term

Timothy syndrome type 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

Timothy syndrome type 1 (disorder)

SCTID: 699256006, Primitive, Active

699256006|Timothy syndrome type 1 (disorder)|

en Long qt syndrome with syndactyly
en Timothy syndrome classic type
en Timothy syndrome type 1
en Timothy syndrome type 1 (disorder)

Expression

699256006 |Timothy syndrome type 1 (disorder)|
 <<< 41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
373413006 |Syndactyly (disorder)| + 
442917000 |Congenital long qt syndrome (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1230096008 |Timothy syndrome (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| : 
        { 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)| = 80891009 |Heart structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 24964005 |Cardiac conducting system structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2983304019 - Long QT syndrome with syndactyly (en) View
2983304019	en	Synonym (core metadata concept)	Long QT syndrome with syndactyly	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2983538014 - Timothy syndrome classic type (en) View
2983538014	en	Synonym (core metadata concept)	Timothy syndrome classic type	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2983544013 - Timothy syndrome type 1 (en) View
2983544013	en	Synonym (core metadata concept)	Timothy syndrome type 1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2983535012 - Timothy syndrome type 1 (disorder) (en) View
2983535012	en	Fully specified name (core metadata concept)	Timothy syndrome type 1 (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5024610027) - 699256006 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15840318026) - 699256006 -> 1297033003 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297033003 \|Abnormally fused structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15769041026) - 699256006 -> 24964005 (363698007) View
363698007 \|Finding site (attribute)\|	24964005 \|Cardiac conducting system structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6674223028) - 699256006 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15223289026) - 699256006 -> 1230096008 (116680003) View
116680003 \|Is a (attribute)\|	1230096008 \|Timothy syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15223290024) - 699256006 -> 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 (13069790025) - 699256006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4786109028) - 699256006 -> 460495004 (116680003) View
116680003 \|Is a (attribute)\|	460495004 \|Long qt syndrome with genetic marker (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6674224023) - 699256006 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12088940024) - 699256006 -> 762228008 (116680003) View
116680003 \|Is a (attribute)\|	762228008 \|Congenital cardiovascular disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12486521029) - 699256006 -> 442917000 (116680003) View
116680003 \|Is a (attribute)\|	442917000 \|Congenital long qt syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12088941023) - 699256006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4775455024) - 699256006 -> 80891009 (363698007) View
363698007 \|Finding site (attribute)\|	80891009 \|Heart structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524985021) - 699256006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6674222022) - 699256006 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4775454023) - 699256006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4775639024) - 699256006 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4775640021) - 699256006 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4977491029) - 699256006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024611028) - 699256006 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4775638027) - 699256006 -> 373413006 (116680003) View
116680003 \|Is a (attribute)\|	373413006 \|Syndactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1230096008 View
1230096008	Timothy syndrome (disorder)	Timothy syndrome	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
442917000 View
442917000	Congenital long qt syndrome (disorder)	Familial long qt syndrome	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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	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 (0393bab9-22ce-560b-9a76-47b74e602c64) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	I45.8	TRUE	ALWAYS I45.8 \| 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 (39e18b01-b354-5343-b2b3-35265b7b199c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	I49.8	TRUE	ALWAYS I49.8 \| 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 (bd95bc87-7c41-56f3-9ffb-a4154c5407b8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q70.9	TRUE	ALWAYS Q70.9	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 699256006

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches