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Terminology chevron_right Concepts chevron_right 22567005

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Component

22567005

The component that hold information about this concept.

Fully Specified Name (FSN)

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)

Shortest Term

Sed 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

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)

SCTID: 22567005, Primitive, Active

22567005|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)|

en Pseudoachondroplasia
en Pseudoachondroplastic dysplasia
en Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
en Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)
en Sed syndrome

Expression

22567005 |Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)|
 <<< 278713008 |Spondyloepiphyseal dysplasia congenita group (disorder)| + 
254062008 |Spondyloepimetaphyseal 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
481375013 - Pseudoachondroplasia (en) View
481375013	en	Synonym (core metadata concept)	Pseudoachondroplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
37884013 - Pseudoachondroplastic dysplasia (en) View
37884013	en	Synonym (core metadata concept)	Pseudoachondroplastic dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
37882012 - Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (en) View
37882012	en	Synonym (core metadata concept)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
751989010 - Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder) (en) View
751989010	en	Fully specified name (core metadata concept)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
37883019 - SED syndrome (en) View
37883019	en	Synonym (core metadata concept)	SED syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13280404028) - 22567005 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (446487029) - 22567005 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3330065029) - 22567005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (728556023) - 22567005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4984447026) - 22567005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4993400027) - 22567005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023741026) - 22567005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523604025) - 22567005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523605029) - 22567005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (184846020) - 22567005 -> 367530008 (116680003) View
116680003 \|Is a (attribute)\|	367530008 \|Spondyloepiphyseal dysplasia congenita (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5993373024) - 22567005 -> 278713008 (116680003) View
116680003 \|Is a (attribute)\|	278713008 \|Spondyloepiphyseal dysplasia congenita group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (728557025) - 22567005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3330066028) - 22567005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1760263028) - 22567005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2265152029) - 22567005 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (446489026) - 22567005 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (184847027) - 22567005 -> 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
254062008 View
254062008	Spondyloepimetaphyseal disorder (disorder)	Spondyloepimetaphyseal disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
278713008 View
278713008	Spondyloepiphyseal dysplasia congenita group (disorder)	Spondyloepiphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept 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 (db057787-2285-5bb0-8167-7d333f00a090) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.8	TRUE	ALWAYS Q77.8	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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