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Terminology chevron_right Concepts chevron_right 724137002

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Component

724137002

The component that hold information about this concept.

Fully Specified Name (FSN)

Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)

Shortest Term

Momo 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

Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)

SCTID: 724137002, Primitive, Active

724137002|Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)|

en Macrocephaly, obesity, mental disability, ocular abnormality syndrome
en Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)
en Momo (macrocephaly, obesity, mental disability, ocular abnormality) syndrome
en Momo syndrome

Expression

724137002 |Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)|
 <<< 48637007 |Multiple malformation syndrome with early overgrowth (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
127329003 |Congenital anomaly of visual system (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
371409005 |Disorder of eye region (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1145402008 |Congenital macrocephaly (disorder)| + 
1359741006 |Genetic obesity disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 371398005 |Eye region 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)| = 363808001 |Body weight measure (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363812007 |Head circumference (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
3430962018 - Macrocephaly, obesity, mental disability, ocular abnormality syndrome (en) View
3430962018	en	Synonym (core metadata concept)	Macrocephaly, obesity, mental disability, ocular abnormality syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3430960014 - Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) (en) View
3430960014	en	Fully specified name (core metadata concept)	Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3430963011 - MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome (en) View
3430963011	en	Synonym (core metadata concept)	MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3430961013 - MOMO syndrome (en) View
3430961013	en	Synonym (core metadata concept)	MOMO syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6874272021) - 724137002 -> 414916001 (116680003) View
116680003 \|Is a (attribute)\|	414916001 \|Obesity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9127966027) - 724137002 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16284816025) - 724137002 -> 1359741006 (116680003) View
116680003 \|Is a (attribute)\|	1359741006 \|Genetic obesity disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16316790022) - 724137002 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095127027) - 724137002 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095128021) - 724137002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096491021) - 724137002 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096492025) - 724137002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874265020) - 724137002 -> 19410003 (116680003) View
116680003 \|Is a (attribute)\|	19410003 \|Macrocephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10521072020) - 724137002 -> 302548004 (363698007) View
363698007 \|Finding site (attribute)\|	302548004 \|Entire head (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13692378025) - 724137002 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13692379022) - 724137002 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13692380020) - 724137002 -> 1145402008 (116680003) View
116680003 \|Is a (attribute)\|	1145402008 \|Congenital macrocephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13692381024) - 724137002 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069464027) - 724137002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12488232024) - 724137002 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9279405027) - 724137002 -> 363808001 (363714003) View
363714003 \|Interprets (attribute)\|	363808001 \|Body weight measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521067027) - 724137002 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11300813020) - 724137002 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874274022) - 724137002 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874275023) - 724137002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874276024) - 724137002 -> 302548004 (363698007) View
363698007 \|Finding site (attribute)\|	302548004 \|Entire head (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874277026) - 724137002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874278020) - 724137002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874279028) - 724137002 -> 371398005 (363698007) View
363698007 \|Finding site (attribute)\|	371398005 \|Eye region structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10521065024) - 724137002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521066020) - 724137002 -> 371398005 (363698007) View
363698007 \|Finding site (attribute)\|	371398005 \|Eye region structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521068021) - 724137002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521069029) - 724137002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521070028) - 724137002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521071029) - 724137002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874268022) - 724137002 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874273027) - 724137002 -> 414915002 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	414915002 \|Obese (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874266021) - 724137002 -> 48637007 (116680003) View
116680003 \|Is a (attribute)\|	48637007 \|Multiple malformation syndrome with early overgrowth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874267028) - 724137002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874269025) - 724137002 -> 127329003 (116680003) View
116680003 \|Is a (attribute)\|	127329003 \|Congenital anomaly of visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874270029) - 724137002 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874271025) - 724137002 -> 371409005 (116680003) View
116680003 \|Is a (attribute)\|	371409005 \|Disorder of eye region (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1359741006 View
1359741006	Genetic obesity disorder (disorder)	Genetic obesity disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
371409005 View
371409005	Disorder of eye region (disorder)	Eye disorder	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
127329003 View
127329003	Congenital anomaly of visual system (disorder)	Congenital anomaly of visual system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (fb46b3b8-2b56-5086-926e-a0fd30ad87e7) 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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