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Terminology chevron_right Concepts chevron_right 720410001

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Component

720410001

The component that hold information about this concept.

Fully Specified Name (FSN)

Acrootoocular syndrome (disorder)

Shortest Term

Acrootoocular 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

Acrootoocular syndrome (disorder)

SCTID: 720410001, Primitive, Active

720410001|Acrootoocular syndrome (disorder)|

en Acro-oto-ocular syndrome
en Acrootoocular syndrome
en Acrootoocular syndrome (disorder)
en Pseudopapilledema, blepharophimosis and hand anomaly syndrome
en Pseudopapilloedema, blepharophimosis and hand anomaly syndrome

Expression

720410001 |Acrootoocular syndrome (disorder)|
 <<< 23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
57138009 |Pseudopapilledema (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
312942003 |Inherited optic neuropathy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 81016008 |Optic disc structure (body structure)|,
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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 66019005 |Limb 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
3320662011 - Acro-oto-ocular syndrome (en) View
3320662011	en	Synonym (core metadata concept)	Acro-oto-ocular syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3320663018 - Acrootoocular syndrome (en) View
3320663018	en	Synonym (core metadata concept)	Acrootoocular syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3320661016 - Acrootoocular syndrome (disorder) (en) View
3320661016	en	Fully specified name (core metadata concept)	Acrootoocular syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3320664012 - Pseudopapilledema, blepharophimosis and hand anomaly syndrome (en) View
3320664012	en	Synonym (core metadata concept)	Pseudopapilledema, blepharophimosis and hand anomaly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3320665013 - Pseudopapilloedema, blepharophimosis and hand anomaly syndrome (en) View
3320665013	en	Synonym (core metadata concept)	Pseudopapilloedema, blepharophimosis and hand anomaly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069206025) - 720410001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6680948020) - 720410001 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6680949028) - 720410001 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091156023) - 720410001 -> 312942003 (116680003) View
116680003 \|Is a (attribute)\|	312942003 \|Inherited optic neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6680950028) - 720410001 -> 81016008 (363698007) View
363698007 \|Finding site (attribute)\|	81016008 \|Optic disc structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6680951029) - 720410001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6680953026) - 720410001 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6680954021) - 720410001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6680955022) - 720410001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683512029) - 720410001 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683513023) - 720410001 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522162022) - 720410001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522163028) - 720410001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522166020) - 720410001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522168021) - 720410001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522169029) - 720410001 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522170028) - 720410001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538633024) - 720410001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548774025) - 720410001 -> 81016008 (363698007) View
363698007 \|Finding site (attribute)\|	81016008 \|Optic disc structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6680945023) - 720410001 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6680946024) - 720410001 -> 57138009 (116680003) View
116680003 \|Is a (attribute)\|	57138009 \|Pseudopapilledema (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6680947026) - 720410001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6680952020) - 720410001 -> 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
312942003 View
312942003	Inherited optic neuropathy (disorder)	Inherited optic neuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
57138009 View
57138009	Pseudopapilledema (disorder)	Pseudopapilledema	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept 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 (3eca32de-ea29-5e1f-8005-75d20d42b1d3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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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