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Terminology chevron_right Concepts chevron_right 9740002

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Component

9740002

The component that hold information about this concept.

Fully Specified Name (FSN)

Macroencephaly (disorder)

Shortest Term

Macrocephaly

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

Macroencephaly (disorder)

SCTID: 9740002, Primitive, Active

9740002|Macroencephaly (disorder)|

en Macroencephaly
en Macroencephaly (disorder)
en Megalencephaly

Expression

9740002 |Macroencephaly (disorder)|
 <<< 702628006 |Congenital anomaly of cerebrum (disorder)| : 
        { 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
17037019 - Macroencephaly (en) View
17037019	en	Synonym (core metadata concept)	Macroencephaly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
841966013 - Macroencephaly (disorder) (en) View
841966013	en	Fully specified name (core metadata concept)	Macroencephaly (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
17038012 - Megalencephaly (en) View
17038012	en	Synonym (core metadata concept)	Megalencephaly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
512794015 - Macrocephaly (en) View
512794015	en	Synonym (core metadata concept)	Macrocephaly	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (310102025) - 9740002 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527545025) - 9740002 -> 258335003 (363698007) View
363698007 \|Finding site (attribute)\|	258335003 \|Entire brain (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12997647026) - 9740002 -> 702628006 (116680003) View
116680003 \|Is a (attribute)\|	702628006 \|Congenital anomaly of cerebrum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12997648020) - 9740002 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527546029) - 9740002 -> 230764002 (116680003) View
116680003 \|Is a (attribute)\|	230764002 \|Congenital and developmental anomalies of the nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527548028) - 9740002 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11300966024) - 9740002 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4978823028) - 9740002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5850173020) - 9740002 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5850174025) - 9740002 -> 258335003 (363698007) View
363698007 \|Finding site (attribute)\|	258335003 \|Entire brain (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6072308026) - 9740002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527547022) - 9740002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4662838021) - 9740002 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4662839029) - 9740002 -> 258335003 (363698007) View
363698007 \|Finding site (attribute)\|	258335003 \|Entire brain (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4978824023) - 9740002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4988868026) - 9740002 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (931945028) - 9740002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3424673023) - 9740002 -> 90141005 (116676008) View
116676008 \|Associated morphology (attribute)\|	90141005 \|Congenital hypertrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3469766021) - 9740002 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (931948026) - 9740002 -> 90141005 (116676008) View
116676008 \|Associated morphology (attribute)\|	90141005 \|Congenital hypertrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (931951022) - 9740002 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (931949023) - 9740002 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (931950023) - 9740002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (931946027) - 9740002 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (931947020) - 9740002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
702628006 View
702628006	Congenital anomaly of cerebrum (disorder)	Congenital anomaly of cerebrum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1260143005 View
1260143005	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder)	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187304005 View
1187304005	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)	Minds syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
879919001 View
879919001	Bilateral megalencephaly (disorder)	Bilateral megalencephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
722036008 View
722036008	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	Mpph syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
703536004 View
703536004	Megalencephalic leukoencephalopathy with subcortical cysts (disorder)	Van der knapp disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
700063005 View
700063005	Macrocephaly-capillary malformation (disorder)	Macrocephaly-capillary malformation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253168004 View
253168004	Familial megalencephaly (disorder)	Familial megalencephaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253169007 View
253169007	Sporadic megalencephaly (disorder)	Sporadic megalencephaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253170008 View
253170008	Hemimegalencephaly (disorder)	Hemimegalencephaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (17927564-8eda-566a-894f-14ca4570c2e5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q75.3	TRUE	ALWAYS Q75.3	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 (363f7ab3-aad0-551d-90b9-9e7a699c003c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.5	TRUE	ALWAYS Q04.5	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 (8aff4b51-3b00-5670-a69f-900bf456c051) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.2	IFA 703536004 \| Megalencephalic leukoencephalopathy with subcortical cysts (disorder) \|	IF MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS CHOOSE E75.2 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (c5ea91c3-8bc5-502b-bd89-e57b37cdc54e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q75.3	OTHERWISE TRUE	ALWAYS Q75.3	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 (f3b03662-0351-57ec-b8bc-5e2daf90e388) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.3	IFA 703370002 \| Megalencephaly-capillary malformation syndrome (disorder) \|	IF MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME CHOOSE Q87.3 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|

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