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Terminology chevron_right Concepts chevron_right 768843007

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Component

768843007

The component that hold information about this concept.

Fully Specified Name (FSN)

Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)

Shortest Term

Tatton brown rahman 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

Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)

SCTID: 768843007, Primitive, Active

768843007|Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)|

en Dna methyltransferase 3 alpha overgrowth syndrome
en Dnmt3a-related overgrowth syndrome
en Tall stature, intellectual disability, facial dysmorphism syndrome
en Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
en Tatton brown rahman overgrowth syndrome
en Tatton brown rahman syndrome

Expression

768843007 |Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)|
 <<< 48637007 |Multiple malformation syndrome with early overgrowth (disorder)| + 
237834000 |Disorder of stature (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3687210015 - DNA methyltransferase 3 alpha overgrowth syndrome (en) View
3687210015	en	Synonym (core metadata concept)	DNA methyltransferase 3 alpha overgrowth syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3687212011 - DNMT3A-related overgrowth syndrome (en) View
3687212011	en	Synonym (core metadata concept)	DNMT3A-related overgrowth syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3687214012 - Tall stature, intellectual disability, facial dysmorphism syndrome (en) View
3687214012	en	Synonym (core metadata concept)	Tall stature, intellectual disability, facial dysmorphism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3687211016 - Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) (en) View
3687211016	en	Fully specified name (core metadata concept)	Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3687209013 - Tatton Brown Rahman overgrowth syndrome (en) View
3687209013	en	Synonym (core metadata concept)	Tatton Brown Rahman overgrowth syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3687213018 - Tatton Brown Rahman syndrome (en) View
3687213018	en	Synonym (core metadata concept)	Tatton Brown Rahman syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9464574025) - 768843007 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16317082022) - 768843007 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094742028) - 768843007 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094743022) - 768843007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096107022) - 768843007 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096108028) - 768843007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280633020) - 768843007 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464572026) - 768843007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10521201022) - 768843007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521202026) - 768843007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464568025) - 768843007 -> 48637007 (116680003) View
116680003 \|Is a (attribute)\|	48637007 \|Multiple malformation syndrome with early overgrowth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464569022) - 768843007 -> 237834000 (116680003) View
116680003 \|Is a (attribute)\|	237834000 \|Disorder of stature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464570023) - 768843007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464571022) - 768843007 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464573020) - 768843007 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	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
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237834000 View
237834000	Disorder of stature (disorder)	Disorder of stature	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 (2048e866-2da9-59d9-9a80-5383713da246) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.3	TRUE	ALWAYS Q87.3 \| 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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