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Terminology chevron_right Concepts chevron_right 1187304005

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Component

1187304005

The component that hold information about this concept.

Fully Specified Name (FSN)

Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)

Shortest Term

Minds 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, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)

SCTID: 1187304005, Primitive, Active

1187304005|Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)|

en Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
en Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)
en Minds (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome
en Minds syndrome
en Smith kingsmore syndrome

Expression

1187304005 |Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
1145402008 |Congenital macrocephaly (disorder)| + 
128613002 |Seizure disorder (disorder)| + 
363035006 |Congenital anomaly of thorax (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
9740002 |Macroencephaly (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1303834006 |Abnormal smallness (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 51185008 |Thoracic 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)| = 83678007 |Cerebral 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)| = 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
4673265016 - Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (en) View
4673265016	en	Synonym (core metadata concept)	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4673266015 - Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) (en) View
4673266015	en	Fully specified name (core metadata concept)	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4673268019 - MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome (en) View
4673268019	en	Synonym (core metadata concept)	MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4673264017 - MINDS syndrome (en) View
4673264017	en	Synonym (core metadata concept)	MINDS syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4673267012 - Smith Kingsmore syndrome (en) View
4673267012	en	Synonym (core metadata concept)	Smith Kingsmore syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14970123022) - 1187304005 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316904028) - 1187304005 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970140029) - 1187304005 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15898963021) - 1187304005 -> 1303834006 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303834006 \|Abnormal smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095397029) - 1187304005 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095398023) - 1187304005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096761026) - 1187304005 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096762022) - 1187304005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970124027) - 1187304005 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970125026) - 1187304005 -> 1145402008 (116680003) View
116680003 \|Is a (attribute)\|	1145402008 \|Congenital macrocephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970126025) - 1187304005 -> 128613002 (116680003) View
116680003 \|Is a (attribute)\|	128613002 \|Seizure disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970127023) - 1187304005 -> 363035006 (116680003) View
116680003 \|Is a (attribute)\|	363035006 \|Congenital anomaly of thorax (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970128029) - 1187304005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970129021) - 1187304005 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970130027) - 1187304005 -> 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 (14970131028) - 1187304005 -> 9740002 (116680003) View
116680003 \|Is a (attribute)\|	9740002 \|Macroencephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970134020) - 1187304005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970135021) - 1187304005 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970136022) - 1187304005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970137029) - 1187304005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970138023) - 1187304005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970139026) - 1187304005 -> 51185008 (363698007) View
363698007 \|Finding site (attribute)\|	51185008 \|Thoracic structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970141025) - 1187304005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970142021) - 1187304005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970143027) - 1187304005 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970144022) - 1187304005 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970145023) - 1187304005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970146024) - 1187304005 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14970147026) - 1187304005 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	4	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
1145402008 View
1145402008	Congenital macrocephaly (disorder)	Congenital macrocephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
9740002 View
9740002	Macroencephaly (disorder)	Macrocephaly	900000000000074008 \|Necessary but not sufficient concept 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
128613002 View
128613002	Seizure disorder (disorder)	Bệnh co giật	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363035006 View
363035006	Congenital anomaly of thorax (disorder)	Congenital anomaly of thorax	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
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
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 (0a9ceb3f-ba87-5d32-8fe3-f3e418ff901f) 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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