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Terminology chevron_right Concepts chevron_right 700063005

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Component

700063005

The component that hold information about this concept.

Fully Specified Name (FSN)

Macrocephaly-capillary malformation (disorder)

Shortest Term

Macrocephaly-capillary malformation

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-capillary malformation (disorder)

SCTID: 700063005, Primitive, Active

700063005|Macrocephaly-capillary malformation (disorder)|

en M-cm - macrocephaly capillary malformation
en Mcap - megalencephaly capillary malformation
en Megalencephaly capillary malformation
en Megalencephaly capillary malformation (disorder)
en Megalencephaly, capillary malformation, polymicrogyria syndrome
en Macrocephaly-capillary malformation
en Macrocephaly-cutis marmorata telangiectatica congenita

Expression

700063005 |Macrocephaly-capillary malformation (disorder)|
 <<< 699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
9740002 |Macroencephaly (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
234118009 |Capillary malformation (disorder)| + 
363070008 |Developmental hereditary disorder (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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 20982000 |Structure of capillary blood vessel (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5459032010 - M-CM - macrocephaly capillary malformation (en) View
5459032010	en	Synonym (core metadata concept)	M-CM - macrocephaly capillary malformation	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2988855015 - M-CM (Macrocephaly-capillary malformation) (en) View
2988855015	en	Synonym (core metadata concept)	M-CM (Macrocephaly-capillary malformation)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
2988861017 - Macrocephaly-capillary malformation (disorder) (en) View
2988861017	en	Fully specified name (core metadata concept)	Macrocephaly-capillary malformation (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
4012683019 - MCAP - megalencephaly capillary malformation (en) View
4012683019	en	Synonym (core metadata concept)	MCAP - megalencephaly capillary malformation	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4012681017 - Megalencephaly capillary malformation (en) View
4012681017	en	Synonym (core metadata concept)	Megalencephaly capillary malformation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4012682012 - Megalencephaly capillary malformation (disorder) (en) View
4012682012	en	Fully specified name (core metadata concept)	Megalencephaly capillary malformation (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3973210011 - Megalencephaly, capillary malformation, polymicrogyria syndrome (en) View
3973210011	en	Synonym (core metadata concept)	Megalencephaly, capillary malformation, polymicrogyria syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2988873017 - Macrocephaly-capillary malformation (en) View
2988873017	en	Synonym (core metadata concept)	Macrocephaly-capillary malformation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2988918016 - Macrocephaly-cutis marmorata telangiectatica congenita (en) View
2988918016	en	Synonym (core metadata concept)	Macrocephaly-cutis marmorata telangiectatica congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12831556021) - 700063005 -> 258335003 (363698007) View
363698007 \|Finding site (attribute)\|	258335003 \|Entire brain (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12997652020) - 700063005 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13070059026) - 700063005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831549026) - 700063005 -> 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 (12831550026) - 700063005 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831551027) - 700063005 -> 9740002 (116680003) View
116680003 \|Is a (attribute)\|	9740002 \|Macroencephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831552023) - 700063005 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831553029) - 700063005 -> 234118009 (116680003) View
116680003 \|Is a (attribute)\|	234118009 \|Capillary malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831554024) - 700063005 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831555020) - 700063005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831557028) - 700063005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831558022) - 700063005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831559025) - 700063005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831560024) - 700063005 -> 20982000 (363698007) View
363698007 \|Finding site (attribute)\|	20982000 \|Structure of capillary blood vessel (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831561023) - 700063005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831562027) - 700063005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831563021) - 700063005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831564026) - 700063005 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12831565025) - 700063005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799239025) - 700063005 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234118009 View
234118009	Capillary malformation (disorder)	Capillary malformation	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
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions 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 (4f26d0fa-cf9d-5f7a-8e58-31480b0bc3ed) 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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