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Terminology chevron_right Concepts chevron_right 722122000

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Component

722122000

The component that hold information about this concept.

Fully Specified Name (FSN)

Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)

Shortest Term

Ring finger protein 135 related overgrowth 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

Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)

SCTID: 722122000, Primitive, Active

722122000|Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)|

en Overgrowth, macrocephaly, facial dysmorphism syndrome
en Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
en Ring finger protein 135 related overgrowth syndrome
en Rnf135 (ring finger protein 135) related overgrowth syndrome

Expression

722122000 |Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)|
 <<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
1145402008 |Congenital macrocephaly (disorder)| + 
48637007 |Multiple malformation syndrome with early overgrowth (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)| }
        { 116676008 |Associated morphology (attribute)| = 442021009 |Enlargement (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 69536005 |Head structure (body structure)|,
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)| = 363812007 |Head circumference (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3330796018 - Overgrowth, macrocephaly, facial dysmorphism syndrome (en) View
3330796018	en	Synonym (core metadata concept)	Overgrowth, macrocephaly, facial dysmorphism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3330795019 - Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) (en) View
3330795019	en	Fully specified name (core metadata concept)	Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3330797010 - Ring finger protein 135 related overgrowth syndrome (en) View
3330797010	en	Synonym (core metadata concept)	Ring finger protein 135 related overgrowth syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3330798017 - RNF135 (ring finger protein 135) related overgrowth syndrome (en) View
3330798017	en	Synonym (core metadata concept)	RNF135 (ring finger protein 135) related overgrowth syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6791234020) - 722122000 -> 19410003 (116680003) View
116680003 \|Is a (attribute)\|	19410003 \|Macrocephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794208029) - 722122000 -> 302548004 (363698007) View
363698007 \|Finding site (attribute)\|	302548004 \|Entire head (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13692403020) - 722122000 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13692404025) - 722122000 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13692405029) - 722122000 -> 1145402008 (116680003) View
116680003 \|Is a (attribute)\|	1145402008 \|Congenital macrocephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13692406028) - 722122000 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069367022) - 722122000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6794207023) - 722122000 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11300857024) - 722122000 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791237029) - 722122000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791239026) - 722122000 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791240029) - 722122000 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791241025) - 722122000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791242021) - 722122000 -> 302548004 (363698007) View
363698007 \|Finding site (attribute)\|	302548004 \|Entire head (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533501024) - 722122000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533502028) - 722122000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533504027) - 722122000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549449020) - 722122000 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549450020) - 722122000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791233025) - 722122000 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791235021) - 722122000 -> 48637007 (116680003) View
116680003 \|Is a (attribute)\|	48637007 \|Multiple malformation syndrome with early overgrowth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791236022) - 722122000 -> 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
Relationship (6791238023) - 722122000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1145402008 View
1145402008	Congenital macrocephaly (disorder)	Congenital macrocephaly	900000000000073002 \|Sufficiently defined by necessary conditions 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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept 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

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 (a660aa9d-f551-59ab-8bbd-62f07148e263) 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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