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Terminology chevron_right Concepts chevron_right 733095006

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Component

733095006

The component that hold information about this concept.

Fully Specified Name (FSN)

Skeletal dysplasia brachydactyly syndrome (disorder)

Shortest Term

Mononen karnes senac 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

Skeletal dysplasia brachydactyly syndrome (disorder)

SCTID: 733095006, Primitive, Active

733095006|Skeletal dysplasia brachydactyly syndrome (disorder)|

en Mononen karnes senac syndrome
en Skeletal dysplasia brachydactyly syndrome
en Skeletal dysplasia brachydactyly syndrome (disorder)

Expression

733095006 |Skeletal dysplasia brachydactyly syndrome (disorder)|
 <<< 43476002 |Brachydactyly (disorder)| + 
105986008 |Congenital skeletal dysplasia (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
8447006 |Congenital anomaly of skeletal bone (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1162984000 |X-linked dominant hereditary disease (disorder)| + 
879976004 |Lesion of bone (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11182007 |Abnormally short growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 361367007 |Entire digit (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)| = 272673000 |Bone 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
3498741012 - Mononen Karnes Senac syndrome (en) View
3498741012	en	Synonym (core metadata concept)	Mononen Karnes Senac syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3498742017 - Skeletal dysplasia brachydactyly syndrome (en) View
3498742017	en	Synonym (core metadata concept)	Skeletal dysplasia brachydactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498743010 - Skeletal dysplasia brachydactyly syndrome (disorder) (en) View
3498743010	en	Fully specified name (core metadata concept)	Skeletal dysplasia brachydactyly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16413258024) - 733095006 -> 879976004 (116680003) View
116680003 \|Is a (attribute)\|	879976004 \|Lesion of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044306023) - 733095006 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13906945028) - 733095006 -> 1162984000 (116680003) View
116680003 \|Is a (attribute)\|	1162984000 \|X-linked dominant hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069559029) - 733095006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7080174024) - 733095006 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226460024) - 733095006 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286431022) - 733095006 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044307025) - 733095006 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044309027) - 733095006 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044311020) - 733095006 -> 361367007 (363698007) View
363698007 \|Finding site (attribute)\|	361367007 \|Entire digit (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044312029) - 733095006 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044313023) - 733095006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044314028) - 733095006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7080175020) - 733095006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533427021) - 733095006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533428027) - 733095006 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533429024) - 733095006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533430025) - 733095006 -> 361367007 (363698007) View
363698007 \|Finding site (attribute)\|	361367007 \|Entire digit (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533431026) - 733095006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044304021) - 733095006 -> 43476002 (116680003) View
116680003 \|Is a (attribute)\|	43476002 \|Brachydactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044305022) - 733095006 -> 105986008 (116680003) View
116680003 \|Is a (attribute)\|	105986008 \|Congenital skeletal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044308024) - 733095006 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044310021) - 733095006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1162984000 View
1162984000	X-linked dominant hereditary disease (disorder)	X-linked dominant hereditary disease	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
879976004 View
879976004	Lesion of bone (disorder)	Lesion of bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
43476002 View
43476002	Brachydactyly (disorder)	Brachydactyly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8447006 View
8447006	Congenital anomaly of skeletal bone (disorder)	Congenital skeletal anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
105986008 View
105986008	Congenital skeletal dysplasia (disorder)	Osteodysplasia	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

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 (6a9ce682-b4b2-517b-a0d9-65ad7fd6ff4c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.5	TRUE	ALWAYS Q87.5 \| 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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