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Terminology chevron_right Concepts chevron_right 56604005

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Component

56604005

The component that hold information about this concept.

Fully Specified Name (FSN)

Cohen syndrome (disorder)

Shortest Term

Cohen 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

Cohen syndrome (disorder)

SCTID: 56604005, Primitive, Active

56604005|Cohen syndrome (disorder)|

en Cohen syndrome (disorder)
en Cohen syndrome

Expression

56604005 |Cohen syndrome (disorder)|
 <<< 64162006 |Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1359763002 |Genetic syndromic childhood obesity (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363808001 |Body weight measure (observable entity)| }
        { 246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
795135010 - Cohen syndrome (disorder) (en) View
795135010	en	Fully specified name (core metadata concept)	Cohen syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
94131019 - Cohen syndrome (en) View
94131019	en	Synonym (core metadata concept)	Cohen syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16331334024) - 56604005 -> 1359763002 (116680003) View
116680003 \|Is a (attribute)\|	1359763002 \|Genetic syndromic childhood obesity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16331335020) - 56604005 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16331336021) - 56604005 -> 363808001 (363714003) View
363714003 \|Interprets (attribute)\|	363808001 \|Body weight measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16331337028) - 56604005 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13068912020) - 56604005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020356021) - 56604005 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10514121025) - 56604005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10514122021) - 56604005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (814426020) - 56604005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2268214024) - 56604005 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4996691022) - 56604005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (240204027) - 56604005 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (814427027) - 56604005 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (240203022) - 56604005 -> 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
Relationship (240205026) - 56604005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1359763002 View
1359763002	Genetic syndromic childhood obesity (disorder)	Genetic syndromic childhood obesity	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
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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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 (cc48551c-5c61-5430-8667-e76a92bc668e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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)\|

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