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Terminology chevron_right Concepts chevron_right 75968004

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Component

75968004

The component that hold information about this concept.

Fully Specified Name (FSN)

Sotos' syndrome (disorder)

Shortest Term

Soto 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

Sotos' syndrome (disorder)

SCTID: 75968004, Primitive, Active

75968004|Sotos' syndrome (disorder)|

en Cerebral giant
en Cerebral gigantism
en Cerebral gigantism syndrome
en Sotos syndrome
en Sotos' syndrome (disorder)
en Sotos' syndrome

Expression

75968004 |Sotos' syndrome (disorder)|
 <<< 48637007 |Multiple malformation syndrome with early overgrowth (disorder)| + 
80849007 |Gigantism (disorder)| + 
88425004 |Congenital anomaly of nervous system (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 52618001 |Structure of pars distalis of pituitary (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 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)| }
        { 363713009 |Has interpretation (attribute)| = 35105006 |Increased (qualifier value)|,
363714003 |Interprets (attribute)| = 35188005 |Hormone production, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 52618001 |Structure of pars distalis of pituitary (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
126182010 - Cerebral giant (en) View
126182010	en	Synonym (core metadata concept)	Cerebral giant	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1233939016 - Cerebral gigantism (en) View
1233939016	en	Synonym (core metadata concept)	Cerebral gigantism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
126181015 - Cerebral gigantism syndrome (en) View
126181015	en	Synonym (core metadata concept)	Cerebral gigantism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1233940019 - Sotos syndrome (en) View
1233940019	en	Synonym (core metadata concept)	Sotos syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
816636013 - Sotos' syndrome (disorder) (en) View
816636013	en	Fully specified name (core metadata concept)	Sotos' syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
126180019 - Sotos' syndrome (en) View
126180019	en	Synonym (core metadata concept)	Sotos' syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
126183017 - Soto syndrome (en) View
126183017	en	Synonym (core metadata concept)	Soto syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068879022) - 75968004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280380023) - 75968004 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090260024) - 75968004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090261023) - 75968004 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4979993026) - 75968004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10530721022) - 75968004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530722026) - 75968004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2737213026) - 75968004 -> 84384007 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	84384007 \|Increased hormone production (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9561126025) - 75968004 -> 35188005 (363714003) View
363714003 \|Interprets (attribute)\|	35188005 \|Hormone production, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9561127023) - 75968004 -> 35105006 (363713009) View
363713009 \|Has interpretation (attribute)\|	35105006 \|Increased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3050569024) - 75968004 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112155028) - 75968004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7112156027) - 75968004 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (863618025) - 75968004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2269879021) - 75968004 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3340251022) - 75968004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3340252026) - 75968004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979992020) - 75968004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4979994021) - 75968004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4798987020) - 75968004 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4798988026) - 75968004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4798989023) - 75968004 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2601328023) - 75968004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2601329026) - 75968004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (863619022) - 75968004 -> 245533002 (363698007) View
363698007 \|Finding site (attribute)\|	245533002 \|Pars anterior of pituitary gland (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2231174022) - 75968004 -> 74012004 (116680003) View
116680003 \|Is a (attribute)\|	74012004 \|Congenital anomaly of pituitary gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (271512024) - 75968004 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (271516022) - 75968004 -> 4184009 (116680003) View
116680003 \|Is a (attribute)\|	4184009 \|Congenital anomaly of endocrine gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (863620027) - 75968004 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (271513025) - 75968004 -> 48637007 (116680003) View
116680003 \|Is a (attribute)\|	48637007 \|Multiple malformation syndrome with early overgrowth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (271514020) - 75968004 -> 80849007 (116680003) View
116680003 \|Is a (attribute)\|	80849007 \|Gigantism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (271515021) - 75968004 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (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
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
48637007 View
48637007	Multiple malformation syndrome with early overgrowth (disorder)	Multiple malformation syndrome with early overgrowth	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80849007 View
80849007	Gigantism (disorder)	Giant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine 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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (8bf40bd6-254b-5a9f-b05a-3689b2736c18) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.3	TRUE	ALWAYS Q87.3	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)\|

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