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Terminology chevron_right Concepts chevron_right 82203000

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Component

82203000

The component that hold information about this concept.

Fully Specified Name (FSN)

Treacher collins syndrome (disorder)

Shortest Term

Treacher collins 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

Treacher collins syndrome (disorder)

SCTID: 82203000, Primitive, Active

82203000|Treacher collins syndrome (disorder)|

en Mandibulofacial dysostosis without limb anomalies
en Franceschetti klein syndrome
en Mandibulofacial dysostosis
en Treacher collins syndrome (disorder)
en Treacher collins syndrome

Expression

82203000 |Treacher collins syndrome (disorder)|
 <<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
1899006 |Autosomal hereditary disorder (disorder)| + 
128219005 |Dysostosis of bone of skull (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 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)| = 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5447456019 - Mandibulofacial dysostosis without limb anomalies (en) View
5447456019	en	Synonym (core metadata concept)	Mandibulofacial dysostosis without limb anomalies	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3788353018 - Franceschetti Klein syndrome (en) View
3788353018	en	Synonym (core metadata concept)	Franceschetti Klein syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
136346019 - Mandibulofacial dysostosis (en) View
136346019	en	Synonym (core metadata concept)	Mandibulofacial dysostosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
823577011 - Treacher Collins syndrome (disorder) (en) View
823577011	en	Fully specified name (core metadata concept)	Treacher Collins syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
136345015 - Treacher Collins syndrome (en) View
136345015	en	Synonym (core metadata concept)	Treacher Collins syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068925028) - 82203000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (879393023) - 82203000 -> 272679001 (363698007) View
363698007 \|Finding site (attribute)\|	272679001 \|Bone structure of head (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1683408025) - 82203000 -> 76069003 (116680003) View
116680003 \|Is a (attribute)\|	76069003 \|Disorder of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12096731024) - 82203000 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096732028) - 82203000 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096733022) - 82203000 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096734027) - 82203000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096735026) - 82203000 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096736025) - 82203000 -> 128219005 (116680003) View
116680003 \|Is a (attribute)\|	128219005 \|Dysostosis of bone of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096737023) - 82203000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5019707025) - 82203000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533288026) - 82203000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533289023) - 82203000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (879392029) - 82203000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2270416024) - 82203000 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2551542022) - 82203000 -> 363039000 (116680003) View
116680003 \|Is a (attribute)\|	363039000 \|Congenital connective tissue disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2551543028) - 82203000 -> 118934005 (116680003) View
116680003 \|Is a (attribute)\|	118934005 \|Disorder of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995257022) - 82203000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5019708024) - 82203000 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (281571026) - 82203000 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2231737025) - 82203000 -> 73573004 (116680003) View
116680003 \|Is a (attribute)\|	73573004 \|Congenital anomaly of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (281573028) - 82203000 -> 312574001 (116680003) View
116680003 \|Is a (attribute)\|	312574001 \|Multisystem disorder s-t (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (281574023) - 82203000 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (281572022) - 82203000 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128219005 View
128219005	Dysostosis of bone of skull (disorder)	Dysostosis of bone of skull	900000000000073002 \|Sufficiently defined by necessary conditions 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
1899006 View
1899006	Autosomal hereditary disorder (disorder)	Autosomal hereditary disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	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 (a91e6a05-05f9-5656-813e-c7551b53a3da) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q75.4	TRUE	ALWAYS Q75.4 \| 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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