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Terminology chevron_right Concepts chevron_right 21086008

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Component

21086008

The component that hold information about this concept.

Fully Specified Name (FSN)

Cockayne syndrome (disorder)

Shortest Term

Cokayne syndrome

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

Cockayne syndrome (disorder)

SCTID: 21086008, Primitive, Active

21086008|Cockayne syndrome (disorder)|

en Cockayne syndrome (disorder)
en Cockayne syndrome

Expression

21086008 |Cockayne syndrome (disorder)|
 <<< 12674005 |Multiple malformation syndrome with senile-like appearance (disorder)| + 
128124001 |Congenital anomaly of central nervous system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (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
750341017 - Cockayne syndrome (disorder) (en) View
750341017	en	Fully specified name (core metadata concept)	Cockayne syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
35440018 - Cockayne syndrome (en) View
35440018	en	Synonym (core metadata concept)	Cockayne syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
35441019 - Cokayne syndrome (en) View
35441019	en	Synonym (core metadata concept)	Cokayne syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
213719011 - Dwarfism-retinal atrophy-deafness syndrome (en) View
213719011	en	Synonym (core metadata concept)	Dwarfism-retinal atrophy-deafness syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068941027) - 21086008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4981938027) - 21086008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4981939024) - 21086008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5020410025) - 21086008 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5875199025) - 21086008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5875200027) - 21086008 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523060024) - 21086008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523061023) - 21086008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (725073025) - 21086008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3378004020) - 21086008 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3378005021) - 21086008 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4799045028) - 21086008 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799046027) - 21086008 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (725072024) - 21086008 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2265032027) - 21086008 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (182479026) - 21086008 -> 23853001 (116680003) View
116680003 \|Is a (attribute)\|	23853001 \|Disorder of the central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (182480028) - 21086008 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2544678027) - 21086008 -> 128124001 (116680003) View
116680003 \|Is a (attribute)\|	128124001 \|Congenital anomaly of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (182478023) - 21086008 -> 12674005 (116680003) View
116680003 \|Is a (attribute)\|	12674005 \|Multiple malformation syndrome with senile-like appearance (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
12674005 View
12674005	Multiple malformation syndrome with senile-like appearance (disorder)	Multiple malformation syndrome with senile-like appearance	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128124001 View
128124001	Congenital anomaly of central nervous system (disorder)	Congenital anomaly of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
890432001 View
890432001	Cockayne syndrome type 3 (disorder)	Cockayne syndrome type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
890433006 View
890433006	Cockayne syndrome type 1 (disorder)	Cockayne syndrome type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
890434000 View
890434000	Cockayne syndrome type 2 (disorder)	Cockayne syndrome type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719819004 View
719819004	Xeroderma pigmentosum and cockayne syndrome complex (disorder)	Xeroderma pigmentosum and cockayne syndrome complex	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 (5c55361a-f5c1-5a75-97f5-a330bc9550a6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1	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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