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Terminology chevron_right Concepts chevron_right 41283003

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Component

41283003

The component that hold information about this concept.

Fully Specified Name (FSN)

Cerebro-oculo-facio-skeletal syndrome (disorder)

Shortest Term

Cofs 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

Cerebro-oculo-facio-skeletal syndrome (disorder)

SCTID: 41283003, Primitive, Active

41283003|Cerebro-oculo-facio-skeletal syndrome (disorder)|

en Pena-shokeir syndrome type 2
en Cerebro-oculo-facio-skeletal syndrome
en Cerebro-oculo-facio-skeletal syndrome (disorder)
en Camak - cerebro-oculo-facio-skeletal syndrome
en Camfak - cerebro-oculo-facio-skeletal syndrome
en Cofs - cerebro-oculo-facio-skeletal syndrome
en Cofs syndrome

Expression

41283003 |Cerebro-oculo-facio-skeletal syndrome (disorder)|
 <<< 64162006 |Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)| + 
88425004 |Congenital anomaly of nervous system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25087005 |Structure of 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
3903050010 - Pena-Shokeir syndrome type 2 (en) View
3903050010	en	Synonym (core metadata concept)	Pena-Shokeir syndrome type 2	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
68857019 - Cerebro-oculo-facio-skeletal syndrome (en) View
68857019	en	Synonym (core metadata concept)	Cerebro-oculo-facio-skeletal syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
778054016 - Cerebro-oculo-facio-skeletal syndrome (disorder) (en) View
778054016	en	Fully specified name (core metadata concept)	Cerebro-oculo-facio-skeletal syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1229741012 - CAMAK - Cerebro-oculo-facio-skeletal syndrome (en) View
1229741012	en	Synonym (core metadata concept)	CAMAK - Cerebro-oculo-facio-skeletal syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1229742017 - CAMFAK - Cerebro-oculo-facio-skeletal syndrome (en) View
1229742017	en	Synonym (core metadata concept)	CAMFAK - Cerebro-oculo-facio-skeletal syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1229743010 - COFS - Cerebro-oculo-facio-skeletal syndrome (en) View
1229743010	en	Synonym (core metadata concept)	COFS - Cerebro-oculo-facio-skeletal syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
68858012 - COFS syndrome (en) View
68858012	en	Synonym (core metadata concept)	COFS syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4984691022) - 41283003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4984692026) - 41283003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4984693020) - 41283003 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5930953022) - 41283003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5930954027) - 41283003 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528934023) - 41283003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528935024) - 41283003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (775171029) - 41283003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2266835022) - 41283003 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3394799029) - 41283003 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3394800025) - 41283003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2787198025) - 41283003 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2787199022) - 41283003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775172020) - 41283003 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2770709025) - 41283003 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (215373029) - 41283003 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (215372023) - 41283003 -> 312566002 (116680003) View
116680003 \|Is a (attribute)\|	312566002 \|Multisystem disorder c-d (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (215374024) - 41283003 -> 64162006 (116680003) View
116680003 \|Is a (attribute)\|	64162006 \|Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
88425004 View
88425004	Congenital anomaly of nervous system (disorder)	Dị tật bẩm sinh của hệ thần kinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
64162006 View
64162006	Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	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 (faa7769b-1df6-5952-9bee-34dde74a605d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0	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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