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Terminology chevron_right Concepts chevron_right 720415006

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Component

720415006

The component that hold information about this concept.

Fully Specified Name (FSN)

Acrorenoocular syndrome (disorder)

Shortest Term

Acrorenoocular 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

Acrorenoocular syndrome (disorder)

SCTID: 720415006, Primitive, Active

720415006|Acrorenoocular syndrome (disorder)|

en Acro-renal-ocular syndrome
en Acrorenoocular syndrome
en Acrorenoocular syndrome (disorder)

Expression

720415006 |Acrorenoocular syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
19416009 |Congenital anomaly of eye (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
44513007 |Congenital anomaly of the kidney (disorder)| + 
123559005 |Congenital anomaly of radius (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
367591000119105 |Hereditary nephropathy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 64033007 |Kidney 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)| = 81745001 |Structure of eye proper (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
3320686013 - Acro-renal-ocular syndrome (en) View
3320686013	en	Synonym (core metadata concept)	Acro-renal-ocular syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3320685012 - Acrorenoocular syndrome (en) View
3320685012	en	Synonym (core metadata concept)	Acrorenoocular syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3320684011 - Acrorenoocular syndrome (disorder) (en) View
3320684011	en	Fully specified name (core metadata concept)	Acrorenoocular syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069209021) - 720415006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681008021) - 720415006 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681012026) - 720415006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681015029) - 720415006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681016028) - 720415006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681018027) - 720415006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681019024) - 720415006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683516026) - 720415006 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6686187026) - 720415006 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6686453025) - 720415006 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6686454020) - 720415006 -> 62413002 (363698007) View
363698007 \|Finding site (attribute)\|	62413002 \|Bone structure of radius (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10518941027) - 720415006 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518942023) - 720415006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518943029) - 720415006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518944024) - 720415006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518945020) - 720415006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518946021) - 720415006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518947028) - 720415006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518948022) - 720415006 -> 62413002 (363698007) View
363698007 \|Finding site (attribute)\|	62413002 \|Bone structure of radius (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518949025) - 720415006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518950025) - 720415006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681003028) - 720415006 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681004023) - 720415006 -> 19416009 (116680003) View
116680003 \|Is a (attribute)\|	19416009 \|Congenital anomaly of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681005024) - 720415006 -> 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 (6681006020) - 720415006 -> 44513007 (116680003) View
116680003 \|Is a (attribute)\|	44513007 \|Congenital anomaly of the kidney (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681007027) - 720415006 -> 123559005 (116680003) View
116680003 \|Is a (attribute)\|	123559005 \|Congenital anomaly of radius (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681009029) - 720415006 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681010023) - 720415006 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681011022) - 720415006 -> 367591000119105 (116680003) View
116680003 \|Is a (attribute)\|	367591000119105 \|Hereditary nephropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681013020) - 720415006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
367591000119105 View
367591000119105	Hereditary nephropathy (disorder)	Hereditary nephropathy	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
19416009 View
19416009	Congenital anomaly of eye (disorder)	Dị tật bẩm sinh của mắt	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
44513007 View
44513007	Congenital anomaly of the kidney (disorder)	Congenital anomaly of kidney	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
123559005 View
123559005	Congenital anomaly of radius (disorder)	Congenital anomaly of radius	900000000000073002 \|Sufficiently defined by necessary conditions 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
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (a7fbc90a-913a-521a-966c-b44503bc3c71) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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