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Terminology chevron_right Concepts chevron_right 389272007

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Component

389272007

The component that hold information about this concept.

Fully Specified Name (FSN)

Carpotarsal osteochondromatosis (disorder)

Shortest Term

Carpotarsal osteochondromatosis

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

Carpotarsal osteochondromatosis (disorder)

SCTID: 389272007, Primitive, Active

389272007|Carpotarsal osteochondromatosis (disorder)|

en Maroteaux le-merrer bensahel syndrome
en Carpotarsal osteochondromatosis
en Carpotarsal osteochondromatosis (disorder)

Expression

389272007 |Carpotarsal osteochondromatosis (disorder)|
 <<< 363045008 |Connective tissue hereditary disorder (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363227003 |Neoplasm of extremity (disorder)| + 
307606005 |Osteochondroma of bone (disorder)| + 
254140006 |Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)| + 
897432004 |Structural abnormality of bone of limb (disorder)| + 
77881008 |Osteochondropathy (disorder)| + 
8447006 |Congenital anomaly of skeletal bone (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
60475009 |Congenital anomaly of limb (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 52299001 |Osteochondroma (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 48566001 |Bone structure of extremity (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)| = 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
3788361011 - Maroteaux Le-Merrer Bensahel syndrome (en) View
3788361011	en	Synonym (core metadata concept)	Maroteaux Le-Merrer Bensahel syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1483309015 - Carpotarsal osteochondromatosis (en) View
1483309015	en	Synonym (core metadata concept)	Carpotarsal osteochondromatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1463451017 - Carpotarsal osteochondromatosis (disorder) (en) View
1463451017	en	Fully specified name (core metadata concept)	Carpotarsal osteochondromatosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16379202022) - 389272007 -> 897432004 (116680003) View
116680003 \|Is a (attribute)\|	897432004 \|Structural abnormality of bone of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069047022) - 389272007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2017991021) - 389272007 -> 52299001 (116676008) View
116676008 \|Associated morphology (attribute)\|	52299001 \|Osteochondroma (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2564620025) - 389272007 -> 410063006 (116680003) View
116680003 \|Is a (attribute)\|	410063006 \|Disorder characterized by multiple exostoses (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3451670024) - 389272007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522539028) - 389272007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522540026) - 389272007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12082426022) - 389272007 -> 48566001 (363698007) View
363698007 \|Finding site (attribute)\|	48566001 \|Bone structure of extremity (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12082427029) - 389272007 -> 60475009 (116680003) View
116680003 \|Is a (attribute)\|	60475009 \|Congenital anomaly of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12082428023) - 389272007 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12082429026) - 389272007 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12082430020) - 389272007 -> 363227003 (116680003) View
116680003 \|Is a (attribute)\|	363227003 \|Neoplasm of extremity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12082431024) - 389272007 -> 307606005 (116680003) View
116680003 \|Is a (attribute)\|	307606005 \|Osteochondroma of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12082432028) - 389272007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12082433022) - 389272007 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3396253025) - 389272007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976252026) - 389272007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4986671029) - 389272007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286428021) - 389272007 -> 77881008 (116680003) View
116680003 \|Is a (attribute)\|	77881008 \|Osteochondropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571821022) - 389272007 -> 771314001 (363698007) View
363698007 \|Finding site (attribute)\|	771314001 \|Cartilage structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571822026) - 389272007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4986672020) - 389272007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023099020) - 389272007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2638540025) - 389272007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2017993024) - 389272007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2638539027) - 389272007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2017992025) - 389272007 -> 302860009 (116680003) View
116680003 \|Is a (attribute)\|	302860009 \|Osteochondromatosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2564621026) - 389272007 -> 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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897432004 View
897432004	Structural abnormality of bone of limb (disorder)	Abnormal limb bone morphology	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
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
307606005 View
307606005	Osteochondroma of bone (disorder)	Osteochondroma of bone	900000000000073002 \|Sufficiently defined by necessary conditions 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
363227003 View
363227003	Neoplasm of extremity (disorder)	Neoplasm of extremity	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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
60475009 View
60475009	Congenital anomaly of limb (disorder)	Congenital anomaly of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
77881008 View
77881008	Osteochondropathy (disorder)	Osteochondropathy	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 (057c134b-e780-5580-9959-b1028593d182) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D48.0	TRUE	ALWAYS D48.0 \| POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE	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)\|
ExtendedMap object (17ed49f8-7ee3-5d96-a9f9-83d001acf142) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D48.1	TRUE	ALWAYS D48.1 \| MAPPED FOLLOWING WHO GUIDANCE \| POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE	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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