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Terminology chevron_right Concepts chevron_right 51952004

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Component

51952004

The component that hold information about this concept.

Fully Specified Name (FSN)

Spondyloepiphyseal dysplasia tarda (disorder)

Shortest Term

Spondyloepiphyseal dysplasia tarda

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

Spondyloepiphyseal dysplasia tarda (disorder)

SCTID: 51952004, Primitive, Active

51952004|Spondyloepiphyseal dysplasia tarda (disorder)|

en Spondyloepiphyseal dysplasia tarda
en Spondyloepiphyseal dysplasia tarda (disorder)
en Sedt - spondyloepiphyseal dysplasia tarda

Expression

51952004 |Spondyloepiphyseal dysplasia tarda (disorder)|
 <<< 105985007 |Osteochondrodysplasia syndrome (disorder)| + 
254062008 |Spondyloepimetaphyseal disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 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)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
86485013 - X-linked spondyloepiphyseal dysplasia (en) View
86485013	en	Synonym (core metadata concept)	X-linked spondyloepiphyseal dysplasia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1231061015 - X-linked spondyloepiphyseal dysplasia tarda (en) View
1231061015	en	Synonym (core metadata concept)	X-linked spondyloepiphyseal dysplasia tarda	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
86484012 - Spondyloepiphyseal dysplasia tarda (en) View
86484012	en	Synonym (core metadata concept)	Spondyloepiphyseal dysplasia tarda	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
789908012 - Spondyloepiphyseal dysplasia tarda (disorder) (en) View
789908012	en	Fully specified name (core metadata concept)	Spondyloepiphyseal dysplasia tarda (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1231062010 - SEDT - Spondyloepiphyseal dysplasia tarda (en) View
1231062010	en	Synonym (core metadata concept)	SEDT - Spondyloepiphyseal dysplasia tarda	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068937026) - 51952004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280401020) - 51952004 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (524287029) - 51952004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3365819022) - 51952004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3442940022) - 51952004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4984119022) - 51952004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4993170022) - 51952004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023720021) - 51952004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046275026) - 51952004 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525570029) - 51952004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525571025) - 51952004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046277023) - 51952004 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (801881027) - 51952004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046276025) - 51952004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (801878021) - 51952004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1769886023) - 51952004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267816025) - 51952004 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (524288023) - 51952004 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (232608025) - 51952004 -> 105985007 (116680003) View
116680003 \|Is a (attribute)\|	105985007 \|Osteochondrodysplasia syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (232609022) - 51952004 -> 254062008 (116680003) View
116680003 \|Is a (attribute)\|	254062008 \|Spondyloepimetaphyseal disorder (disorder)\|	0	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
105985007 View
105985007	Osteochondrodysplasia syndrome (disorder)	Osteochondrodysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254062008 View
254062008	Spondyloepimetaphyseal disorder (disorder)	Spondyloepimetaphyseal disorder	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
719202006 View
719202006	Spondyloepiphyseal dysplasia tarda kohn type (disorder)	Spondyloepiphyseal dysplasia tarda kohn type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
59708000 View
59708000	Multiple epiphyseal dysplasia (disorder)	Multiple epiphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (634f21eb-f81c-5e0c-a84d-57da15dc3137) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.7	TRUE	ALWAYS Q77.7	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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