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Terminology chevron_right Concepts chevron_right 403765001

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Component

403765001

The component that hold information about this concept.

Fully Specified Name (FSN)

Port-wine stain in rubinstein-taybi syndrome (disorder)

Shortest Term

Port-wine stain in rubinstein-taybi 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

Port-wine stain in rubinstein-taybi syndrome (disorder)

SCTID: 403765001, Primitive, Active

403765001|Port-wine stain in rubinstein-taybi syndrome (disorder)|

en Port-wine stain in rubinstein-taybi syndrome
en Port-wine stain in rubinstein-taybi syndrome (disorder)

Expression

403765001 |Port-wine stain in rubinstein-taybi syndrome (disorder)|
 <<< 234118009 |Capillary malformation (disorder)| + 
45582004 |Rubinstein-taybi syndrome (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| : 
        { 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)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1782775011 - Port-wine stain in Rubinstein-Taybi syndrome (en) View
1782775011	en	Synonym (core metadata concept)	Port-wine stain in Rubinstein-Taybi syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
1771691012 - Port-wine stain in Rubinstein-Taybi syndrome (disorder) (en) View
1771691012	en	Fully specified name (core metadata concept)	Port-wine stain in Rubinstein-Taybi syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13280474027) - 403765001 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3369565022) - 403765001 -> 20982000 (363698007) View
363698007 \|Finding site (attribute)\|	20982000 \|Structure of capillary blood vessel (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4974854022) - 403765001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4974855023) - 403765001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011442025) - 403765001 -> 20982000 (363698007) View
363698007 \|Finding site (attribute)\|	20982000 \|Structure of capillary blood vessel (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6148593027) - 403765001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521571022) - 403765001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521572026) - 403765001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2290956021) - 403765001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3369564021) - 403765001 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4799123027) - 403765001 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2290955020) - 403765001 -> 20982000 (363698007) View
363698007 \|Finding site (attribute)\|	20982000 \|Structure of capillary blood vessel (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2641222023) - 403765001 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2290957028) - 403765001 -> 32776006 (116676008) View
116676008 \|Associated morphology (attribute)\|	32776006 \|Congenital vascular anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2250439028) - 403765001 -> 234118009 (116680003) View
116680003 \|Is a (attribute)\|	234118009 \|Capillary malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2250440026) - 403765001 -> 45582004 (116680003) View
116680003 \|Is a (attribute)\|	45582004 \|Rubinstein-taybi syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
234118009 View
234118009	Capillary malformation (disorder)	Capillary malformation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
45582004 View
45582004	Rubinstein-taybi syndrome (disorder)	Rubinstein-taybi syndrome	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

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 (1b5e2318-49b2-57d1-81ca-9bdd98c730ab) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2	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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