dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 702342007

Production

add

Component

702342007

The component that hold information about this concept.

Fully Specified Name (FSN)

Dolichospondylic dysplasia (disorder)

Shortest Term

3m 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

Dolichospondylic dysplasia (disorder)

SCTID: 702342007, Primitive, Active

702342007|Dolichospondylic dysplasia (disorder)|

en Dolichospondylic dysplasia
en Dolichospondylic dysplasia (disorder)
en 3-m syndrome
en 3m syndrome
en Le merrer syndrome
en Miller-mckusick-malvaux syndrome

Expression

702342007 |Dolichospondylic dysplasia (disorder)|
 <<< 363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
105986008 |Congenital skeletal dysplasia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113192009 |Skeletal system 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
2995927017 - Dolichospondylic dysplasia (en) View
2995927017	en	Synonym (core metadata concept)	Dolichospondylic dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2995591018 - Dolichospondylic dysplasia (disorder) (en) View
2995591018	en	Fully specified name (core metadata concept)	Dolichospondylic dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2995017014 - 3-M syndrome (en) View
2995017014	en	Synonym (core metadata concept)	3-M syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
2995192019 - 3M syndrome (en) View
2995192019	en	Synonym (core metadata concept)	3M syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2995895015 - Le Merrer syndrome (en) View
2995895015	en	Synonym (core metadata concept)	Le Merrer syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2995903019 - Miller-McKusick-Malvaux syndrome (en) View
2995903019	en	Synonym (core metadata concept)	Miller-McKusick-Malvaux syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069800025) - 702342007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4994000027) - 702342007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023790026) - 702342007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11227622028) - 702342007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11285986020) - 702342007 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968007028) - 702342007 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531778020) - 702342007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968008022) - 702342007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968009025) - 702342007 -> 105986008 (116680003) View
116680003 \|Is a (attribute)\|	105986008 \|Congenital skeletal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968010024) - 702342007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4993998021) - 702342007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept 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 (4f970289-5b0a-55da-9e93-8bf4cf3c0038) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1	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 702342007

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches