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Terminology chevron_right Concepts chevron_right 771264005

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Component

771264005

The component that hold information about this concept.

Fully Specified Name (FSN)

Absent radius, anogenital anomalies syndrome (disorder)

Shortest Term

Absent radius, anogenital anomalies 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

Absent radius, anogenital anomalies syndrome (disorder)

SCTID: 771264005, Primitive, Active

771264005|Absent radius, anogenital anomalies syndrome (disorder)|

en Absent radius, anogenital anomalies syndrome
en Absent radius, anogenital anomalies syndrome (disorder)

Expression

771264005 |Absent radius, anogenital anomalies syndrome (disorder)|
 <<< 126763008 |Congenital anomaly of perineum (disorder)| + 
88631000119105 |Congenital dysplasia of limb (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
128430005 |X-linked hereditary disease (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
1145466009 |Aplasia of radius (disorder)| + 
109420003 |Dysostosis (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 48566001 |Bone structure of extremity (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)| = 38864007 |Perineal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 45486003 |Aplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 62413002 |Bone structure of radius (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
3705346011 - Absent radius, anogenital anomalies syndrome (en) View
3705346011	en	Synonym (core metadata concept)	Absent radius, anogenital anomalies syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3705345010 - Absent radius, anogenital anomalies syndrome (disorder) (en) View
3705345010	en	Fully specified name (core metadata concept)	Absent radius, anogenital anomalies syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13180554022) - 771264005 -> 84918006 (116680003) View
116680003 \|Is a (attribute)\|	84918006 \|Congenital absence of radius (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16251026028) - 771264005 -> 1145466009 (116680003) View
116680003 \|Is a (attribute)\|	1145466009 \|Aplasia of radius (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681405028) - 771264005 -> 88631000119105 (116680003) View
116680003 \|Is a (attribute)\|	88631000119105 \|Congenital dysplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662410020) - 771264005 -> 123559005 (116680003) View
116680003 \|Is a (attribute)\|	123559005 \|Congenital anomaly of radius (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11187796022) - 771264005 -> 249738000 (116680003) View
116680003 \|Is a (attribute)\|	249738000 \|Absence of bone in arm (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069884020) - 771264005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10448530023) - 771264005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11227612023) - 771264005 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662405021) - 771264005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662406022) - 771264005 -> 126763008 (116680003) View
116680003 \|Is a (attribute)\|	126763008 \|Congenital anomaly of perineum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662408023) - 771264005 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662411024) - 771264005 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662412028) - 771264005 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662413022) - 771264005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662416025) - 771264005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662420026) - 771264005 -> 109420003 (116680003) View
116680003 \|Is a (attribute)\|	109420003 \|Dysostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10223612028) - 771264005 -> 38864007 (363698007) View
363698007 \|Finding site (attribute)\|	38864007 \|Perineal structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10224590024) - 771264005 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10224593021) - 771264005 -> 62413002 (363698007) View
363698007 \|Finding site (attribute)\|	62413002 \|Bone structure of radius (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10448529029) - 771264005 -> 48566001 (363698007) View
363698007 \|Finding site (attribute)\|	48566001 \|Bone structure of extremity (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521073026) - 771264005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521074021) - 771264005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521075022) - 771264005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538496021) - 771264005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1145466009 View
1145466009	Aplasia of radius (disorder)	Aplasia of radius	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
88631000119105 View
88631000119105	Congenital dysplasia of limb (disorder)	Congenital dysplasia of limb	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
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
109420003 View
109420003	Dysostosis (disorder)	Dysostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
126763008 View
126763008	Congenital anomaly of perineum (disorder)	Congenital anomaly of perineum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128430005 View
128430005	X-linked hereditary disease (disorder)	X-linked hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal 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 (1385d2e1-682d-5015-82b0-910d30108749) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2 \| 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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