dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 83015004

Production

add

Component

83015004

The component that hold information about this concept.

Fully Specified Name (FSN)

Saethre-chotzen syndrome (disorder)

Shortest Term

Saethre-chotzen 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

Saethre-chotzen syndrome (disorder)

SCTID: 83015004, Primitive, Active

83015004|Saethre-chotzen syndrome (disorder)|

en Saethre-chotzen syndrome (disorder)
en Acrocephalosyndactyly, type iii
en Saethre-chotzen syndrome

Expression

83015004 |Saethre-chotzen syndrome (disorder)|
 <<< 1003586008 |Congenital synostosis of coronal suture of skull (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
268262006 |Acrocephalosyndactyly (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1297034009 |Premature fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 29012004 |Structure of coronal 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)| = 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
824560018 - Saethre-Chotzen syndrome (disorder) (en) View
824560018	en	Fully specified name (core metadata concept)	Saethre-Chotzen syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
137694017 - Acrocephalosyndactyly, type III (en) View
137694017	en	Synonym (core metadata concept)	Acrocephalosyndactyly, type III	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
137693011 - Saethre-Chotzen syndrome (en) View
137693011	en	Synonym (core metadata concept)	Saethre-Chotzen syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13917222025) - 83015004 -> 298364001 (116680003) View
116680003 \|Is a (attribute)\|	298364001 \|Finding of head region (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16293407025) - 83015004 -> 1003586008 (116680003) View
116680003 \|Is a (attribute)\|	1003586008 \|Congenital synostosis of coronal suture of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518257021) - 83015004 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10518261026) - 83015004 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15839092029) - 83015004 -> 1297034009 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297034009 \|Premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15840159027) - 83015004 -> 1297033003 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297033003 \|Abnormally fused structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13110100021) - 83015004 -> 237513002 (116680003) View
116680003 \|Is a (attribute)\|	237513002 \|Congenital anomaly of bone and joint (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13110102029) - 83015004 -> 51655004 (116680003) View
116680003 \|Is a (attribute)\|	51655004 \|Congenital anomaly of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (881789024) - 83015004 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13110099029) - 83015004 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13110101020) - 83015004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13110103023) - 83015004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13110104028) - 83015004 -> 29012004 (363698007) View
363698007 \|Finding site (attribute)\|	29012004 \|Structure of coronal suture of skull (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3586469028) - 83015004 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5004005023) - 83015004 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010633023) - 83015004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5028720024) - 83015004 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6816908026) - 83015004 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6816910029) - 83015004 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10518256028) - 83015004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518258027) - 83015004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518259024) - 83015004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518260025) - 83015004 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (283033020) - 83015004 -> 57219006 (116680003) View
116680003 \|Is a (attribute)\|	57219006 \|Craniosynostosis syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010631020) - 83015004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010632029) - 83015004 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6816907020) - 83015004 -> 268262006 (116680003) View
116680003 \|Is a (attribute)\|	268262006 \|Acrocephalosyndactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6816909023) - 83015004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (881790026) - 83015004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3586470027) - 83015004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3586471028) - 83015004 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3608366028) - 83015004 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3197252028) - 83015004 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3213214022) - 83015004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3521489022) - 83015004 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3553597022) - 83015004 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1780228026) - 83015004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1003586008 View
1003586008	Congenital synostosis of coronal suture of skull (disorder)	Congenital coronal craniosynostosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
268262006 View
268262006	Acrocephalosyndactyly (disorder)	Apert's syndrome	900000000000074008 \|Necessary but not sufficient concept 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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	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 (29047c2d-3eed-519f-afdb-6df8a7050222) 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)\|

Terminology chevron_right Concepts chevron_right 83015004

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches