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Terminology chevron_right Concepts chevron_right 720757001

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Attribute Value with ID “4cec98c6-4e8b-483e-96a3-308dfa7db1c2” doesn’t exist. Perhaps it was deleted?

Component

720757001

The component that hold information about this concept.

Fully Specified Name (FSN)

Craniofrontonasal dysplasia with poland anomaly syndrome (disorder)

Shortest Term

Webster deming 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

Craniofrontonasal dysplasia with poland anomaly syndrome (disorder)

SCTID: 720757001, Primitive, Active

720757001|Craniofrontonasal dysplasia with poland anomaly syndrome (disorder)|

en Craniofrontonasal dysplasia with poland anomaly syndrome
en Craniofrontonasal dysplasia with poland anomaly syndrome (disorder)
en Webster deming syndrome

Expression

720757001 |Craniofrontonasal dysplasia with poland anomaly syndrome (disorder)|
 <<< 86610004 |Frontonasal dysplasia sequence (disorder)| + 
237513002 |Congenital anomaly of bone and joint (disorder)| + 
57219006 |Craniosynostosis syndrome (disorder)| + 
38371006 |Poland anomaly (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1297034009 |Premature fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 51863000 |Joint structure of suture of skull (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 60005003 |Pectoralis major muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 1297033003 |Abnormally fused 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)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89546000 |Bone structure of cranium (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)| = 89545001 |Face 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
3322022016 - Craniofrontonasal dysplasia with Poland anomaly syndrome (en) View
3322022016	en	Synonym (core metadata concept)	Craniofrontonasal dysplasia with Poland anomaly syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3322021011 - Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) (en) View
3322021011	en	Fully specified name (core metadata concept)	Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3322023014 - Webster Deming syndrome (en) View
3322023014	en	Synonym (core metadata concept)	Webster Deming syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10546409027) - 720757001 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10546411020) - 720757001 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15839130022) - 720757001 -> 1297034009 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297034009 \|Premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15840354027) - 720757001 -> 1297033003 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297033003 \|Abnormally fused structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687578024) - 720757001 -> 128219005 (116680003) View
116680003 \|Is a (attribute)\|	128219005 \|Dysostosis of bone of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687585023) - 720757001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527888027) - 720757001 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11283793028) - 720757001 -> 268262006 (116680003) View
116680003 \|Is a (attribute)\|	268262006 \|Acrocephalosyndactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13110060021) - 720757001 -> 57219006 (116680003) View
116680003 \|Is a (attribute)\|	57219006 \|Craniosynostosis syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13110084029) - 720757001 -> 86610004 (116680003) View
116680003 \|Is a (attribute)\|	86610004 \|Frontonasal dysplasia sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13110085028) - 720757001 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13110086027) - 720757001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13110087020) - 720757001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13186754028) - 720757001 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6579162026) - 720757001 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687576023) - 720757001 -> 23939000 (116680003) View
116680003 \|Is a (attribute)\|	23939000 \|Imperfect fusion of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687580029) - 720757001 -> 248387005 (116680003) View
116680003 \|Is a (attribute)\|	248387005 \|Cranial suture finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11224997024) - 720757001 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6579163020) - 720757001 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6579164025) - 720757001 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6579165029) - 720757001 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687588020) - 720757001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687591020) - 720757001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6689312020) - 720757001 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6689313026) - 720757001 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6750042025) - 720757001 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6750043024) - 720757001 -> 60005003 (363698007) View
363698007 \|Finding site (attribute)\|	60005003 \|Pectoralis major muscle structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6750524027) - 720757001 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6750525026) - 720757001 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527883020) - 720757001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527884025) - 720757001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527885029) - 720757001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527886028) - 720757001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527887021) - 720757001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527890026) - 720757001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527891027) - 720757001 -> 60005003 (363698007) View
363698007 \|Finding site (attribute)\|	60005003 \|Pectoralis major muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527893029) - 720757001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546412029) - 720757001 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546413023) - 720757001 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687577025) - 720757001 -> 38371006 (116680003) View
116680003 \|Is a (attribute)\|	38371006 \|Poland anomaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687579027) - 720757001 -> 237513002 (116680003) View
116680003 \|Is a (attribute)\|	237513002 \|Congenital anomaly of bone and joint (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687582021) - 720757001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
57219006 View
57219006	Craniosynostosis syndrome (disorder)	Craniostosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
237513002 View
237513002	Congenital anomaly of bone and joint (disorder)	Congenital anomaly of bone and joint	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
38371006 View
38371006	Poland anomaly (disorder)	Poland anomaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86610004 View
86610004	Frontonasal dysplasia sequence (disorder)	Median cleft face syndrome	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 (8ce707fe-90b8-5151-b4c4-076a3e8b75ae) 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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