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Terminology chevron_right Concepts chevron_right 254063003

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Component

254063003

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal recessive spondyloepimetaphyseal dysplasia (disorder)

Shortest Term

Irapa type spondyloepimetaphyseal dysplasia

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

Autosomal recessive spondyloepimetaphyseal dysplasia (disorder)

SCTID: 254063003, Primitive, Inactive

254063003|Autosomal recessive spondyloepimetaphyseal dysplasia (disorder)|

en Autosomal recessive spondyloepimetaphyseal dysplasia
en Autosomal recessive spondyloepimetaphyseal dysplasia (disorder)

Expression

254063003 |Autosomal recessive spondyloepimetaphyseal dysplasia (disorder)|
 <<< 

Diagram

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
378212017 - Autosomal recessive spondyloepimetaphyseal dysplasia (en) View
378212017	en	Synonym (core metadata concept)	Autosomal recessive spondyloepimetaphyseal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
644903018 - Autosomal recessive spondyloepimetaphyseal dysplasia (disorder) (en) View
644903018	en	Fully specified name (core metadata concept)	Autosomal recessive spondyloepimetaphyseal dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
378213010 - Irapa type spondyloepimetaphyseal dysplasia (en) View
378213010	en	Synonym (core metadata concept)	Irapa type spondyloepimetaphyseal dysplasia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (74153022) - 254063003 -> 105985007 (116680003) View
116680003 \|Is a (attribute)\|	105985007 \|Osteochondrodysplasia syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74154027) - 254063003 -> 254062008 (116680003) View
116680003 \|Is a (attribute)\|	254062008 \|Spondyloepimetaphyseal disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4982107026) - 254063003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4991558023) - 254063003 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023554024) - 254063003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579378021) - 254063003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3304905021) - 254063003 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3304906022) - 254063003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579373028) - 254063003 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736323027) - 254063003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2256493021) - 254063003 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473077023) - 254063003 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473076025) - 254063003 -> 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

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 (1507da75-4522-5442-afc1-61f89c1ac8fe) 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)\|
ExtendedMap object (d04bea44-fd1e-5ada-8cee-e74377554b17) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q79.8	TRUE	ALWAYS Q79.8	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)\|

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (74153022) - 254063003 -> 105985007 (116680003) View
116680003 \|Is a (attribute)\|	105985007 \|Osteochondrodysplasia syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74154027) - 254063003 -> 254062008 (116680003) View
116680003 \|Is a (attribute)\|	254062008 \|Spondyloepimetaphyseal disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4982107026) - 254063003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4991558023) - 254063003 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023554024) - 254063003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579378021) - 254063003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3304905021) - 254063003 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3304906022) - 254063003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579373028) - 254063003 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736323027) - 254063003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2256493021) - 254063003 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473077023) - 254063003 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473076025) - 254063003 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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