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Terminology chevron_right Concepts chevron_right 774102003

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Component

774102003

The component that hold information about this concept.

Fully Specified Name (FSN)

Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

Shortest Term

Momes 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

Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

SCTID: 774102003, Primitive, Active

774102003|Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)|

en Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome
en Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
en Momes syndrome

Expression

774102003 |Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)|
 <<< 363343008 |Hereditary disorder of the visual system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
127329003 |Congenital anomaly of visual system (disorder)| + 
199879009 |Congenital anomaly of skin (disorder)| + 
371409005 |Disorder of eye region (disorder)| + 
363070008 |Developmental hereditary disorder (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)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| = 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)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363808001 |Body weight 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
3728132013 - Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (en) View
3728132013	en	Synonym (core metadata concept)	Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3728131018 - Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) (en) View
3728131018	en	Fully specified name (core metadata concept)	Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3728133015 - MOMES syndrome (en) View
3728133015	en	Synonym (core metadata concept)	MOMES syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10624494020) - 774102003 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10624497029) - 774102003 -> 414916001 (116680003) View
116680003 \|Is a (attribute)\|	414916001 \|Obesity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16284809026) - 774102003 -> 1359741006 (116680003) View
116680003 \|Is a (attribute)\|	1359741006 \|Genetic obesity disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16316667024) - 774102003 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094834020) - 774102003 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094835021) - 774102003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096199029) - 774102003 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096200026) - 774102003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13070026029) - 774102003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12488252020) - 774102003 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624486029) - 774102003 -> 363808001 (363714003) View
363714003 \|Interprets (attribute)\|	363808001 \|Body weight measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624478029) - 774102003 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624479021) - 774102003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624480024) - 774102003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624481023) - 774102003 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624482027) - 774102003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624483021) - 774102003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624484026) - 774102003 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624485025) - 774102003 -> 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 (10624487022) - 774102003 -> 127329003 (116680003) View
116680003 \|Is a (attribute)\|	127329003 \|Congenital anomaly of visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624488028) - 774102003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624489020) - 774102003 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624490027) - 774102003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624491028) - 774102003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624492024) - 774102003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624493025) - 774102003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624495021) - 774102003 -> 371398005 (363698007) View
363698007 \|Finding site (attribute)\|	371398005 \|Eye region structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624496022) - 774102003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624498023) - 774102003 -> 371409005 (116680003) View
116680003 \|Is a (attribute)\|	371409005 \|Disorder of eye region (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10624499026) - 774102003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
199879009 View
199879009	Congenital anomaly of skin (disorder)	Genodermatosis, nos	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
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
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
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	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 (ba003b28-cca8-55a3-961e-7851b6528be0) 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)\|
ExtendedMap object (d27e520c-7fb7-56ea-8e30-26956b0b0813) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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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