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Terminology chevron_right Concepts chevron_right 733087007

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Component

733087007

The component that hold information about this concept.

Fully Specified Name (FSN)

Polydactyly myopia syndrome (disorder)

Shortest Term

Czeizel brooser 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

Polydactyly myopia syndrome (disorder)

SCTID: 733087007, Primitive, Active

733087007|Polydactyly myopia syndrome (disorder)|

en Czeizel brooser syndrome
en Polydactyly myopia syndrome
en Polydactyly myopia syndrome (disorder)

Expression

733087007 |Polydactyly myopia syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
57190000 |Myopia (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
367506006 |Polydactyly (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 49549006 |Structure of visual system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 91431006 |Supernumerary structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 82680008 |Digit 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
3498721019 - Czeizel Brooser syndrome (en) View
3498721019	en	Synonym (core metadata concept)	Czeizel Brooser syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3498720018 - Polydactyly myopia syndrome (en) View
3498720018	en	Synonym (core metadata concept)	Polydactyly myopia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498719012 - Polydactyly myopia syndrome (disorder) (en) View
3498719012	en	Fully specified name (core metadata concept)	Polydactyly myopia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069553028) - 733087007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044213020) - 733087007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044214025) - 733087007 -> 49549006 (363698007) View
363698007 \|Finding site (attribute)\|	49549006 \|Structure of visual system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524697024) - 733087007 -> 49549006 (363698007) View
363698007 \|Finding site (attribute)\|	49549006 \|Structure of visual system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524698025) - 733087007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524699022) - 733087007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524700023) - 733087007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044205024) - 733087007 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044206020) - 733087007 -> 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 (7044207027) - 733087007 -> 57190000 (116680003) View
116680003 \|Is a (attribute)\|	57190000 \|Myopia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044208021) - 733087007 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044209029) - 733087007 -> 367506006 (116680003) View
116680003 \|Is a (attribute)\|	367506006 \|Polydactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044210023) - 733087007 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044211022) - 733087007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044212026) - 733087007 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	2	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
367506006 View
367506006	Polydactyly (disorder)	Polydactyly	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
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
57190000 View
57190000	Myopia (disorder)	Myopia	900000000000074008 \|Necessary but not sufficient concept 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 (eec885f4-d740-5496-a3e8-325d13c7958a) 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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