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Terminology chevron_right Concepts chevron_right 254044004

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Component

254044004

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple congenital exostosis (disorder)

Shortest Term

Diaphyseal aclasia

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Multiple congenital exostosis (disorder)

SCTID: 254044004, Defined, Active

254044004|Multiple congenital exostosis (disorder)|

en Diaphyseal aclasia
en Hereditary multiple exostosis
en Multiple congenital exostosis
en Multiple congenital exostosis (disorder)
en Multiple osteochondromatosis
en Osteochondromatosis
en Osteochondromatosis syndrome
en Multiple exostoses type i

Expression

254044004 |Multiple congenital exostosis (disorder)|
 === 363045008 |Connective tissue hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
410063006 |Disorder characterized by multiple exostoses (disorder)| + 
254140006 |Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
94765005 |Neoplasm of uncertain behavior of bone (disorder)| + 
77881008 |Osteochondropathy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 66467005 |Osteochondromatosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 771314001 |Cartilage 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
2475977016 - Diaphyseal aclasia (en) View
2475977016	en	Synonym (core metadata concept)	Diaphyseal aclasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1495220017 - Hereditary multiple exostosis (en) View
1495220017	en	Synonym (core metadata concept)	Hereditary multiple exostosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
378184019 - Multiple congenital exostosis (en) View
378184019	en	Synonym (core metadata concept)	Multiple congenital exostosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
644882012 - Multiple congenital exostosis (disorder) (en) View
644882012	en	Fully specified name (core metadata concept)	Multiple congenital exostosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2475978014 - Multiple osteochondromatosis (en) View
2475978014	en	Synonym (core metadata concept)	Multiple osteochondromatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2475976013 - Osteochondromatosis (en) View
2475976013	en	Synonym (core metadata concept)	Osteochondromatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2475975012 - Osteochondromatosis syndrome (en) View
2475975012	en	Synonym (core metadata concept)	Osteochondromatosis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2470122011 - Multiple hereditary exostoses (en) View
2470122011	en	Synonym (core metadata concept)	Multiple hereditary exostoses	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
2475979018 - Multiple exostoses type I (en) View
2475979018	en	Synonym (core metadata concept)	Multiple exostoses type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10522309023) - 254044004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11286027024) - 254044004 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069672021) - 254044004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2557442026) - 254044004 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4989779022) - 254044004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4989780020) - 254044004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023418022) - 254044004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11286025027) - 254044004 -> 771314001 (363698007) View
363698007 \|Finding site (attribute)\|	771314001 \|Cartilage structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286026026) - 254044004 -> 77881008 (116680003) View
116680003 \|Is a (attribute)\|	77881008 \|Osteochondropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522308026) - 254044004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (340761024) - 254044004 -> 268276007 (116680003) View
116680003 \|Is a (attribute)\|	268276007 \|Congenital exostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6034701026) - 254044004 -> 80400009 (116676008) View
116676008 \|Associated morphology (attribute)\|	80400009 \|External hyperostosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9464555022) - 254044004 -> 66467005 (116676008) View
116676008 \|Associated morphology (attribute)\|	66467005 \|Osteochondromatosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464556023) - 254044004 -> 94765005 (116680003) View
116680003 \|Is a (attribute)\|	94765005 \|Neoplasm of uncertain behavior of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6034700025) - 254044004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6034702022) - 254044004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (997823024) - 254044004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3309386028) - 254044004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3309387021) - 254044004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4980005026) - 254044004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (997824029) - 254044004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1796052021) - 254044004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2557443020) - 254044004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2557444025) - 254044004 -> 410063006 (116680003) View
116680003 \|Is a (attribute)\|	410063006 \|Disorder characterized by multiple exostoses (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2557445029) - 254044004 -> 254140006 (116680003) View
116680003 \|Is a (attribute)\|	254140006 \|Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2557446028) - 254044004 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (997825028) - 254044004 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (997826027) - 254044004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
254140006 View
254140006	Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)	Disorganised development of cartilaginous and fibrous components of the skeleton	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
410063006 View
410063006	Disorder characterized by multiple exostoses (disorder)	Disorder characterised by multiple exostoses	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363045008 View
363045008	Connective tissue hereditary disorder (disorder)	Connective tissue 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
77881008 View
77881008	Osteochondropathy (disorder)	Osteochondropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
94765005 View
94765005	Neoplasm of uncertain behavior of bone (disorder)	Neoplasm of uncertain behavior of bone	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 (65838755-aab1-5689-9da1-1a2c520d008d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.6	TRUE	ALWAYS Q78.6	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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