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Terminology chevron_right Concepts chevron_right 254062008

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Component

254062008

The component that hold information about this concept.

Fully Specified Name (FSN)

Spondyloepimetaphyseal disorder (disorder)

Shortest Term

Spondyloepimetaphyseal disorder

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

Spondyloepimetaphyseal disorder (disorder)

SCTID: 254062008, Primitive, Active

254062008|Spondyloepimetaphyseal disorder (disorder)|

en Spondyloepimetaphyseal disorder
en Spondyloepimetaphyseal disorder (disorder)
en Spondyloepimetaphyseal dysplasia

Expression

254062008 |Spondyloepimetaphyseal disorder (disorder)|
 <<< 28681006 |Metaphyseal chondrodysplasia (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
378211012 - Spondyloepimetaphyseal disorder (en) View
378211012	en	Synonym (core metadata concept)	Spondyloepimetaphyseal disorder	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
644902011 - Spondyloepimetaphyseal disorder (disorder) (en) View
644902011	en	Fully specified name (core metadata concept)	Spondyloepimetaphyseal disorder (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3035816013 - Spondyloepimetaphyseal dysplasia (en) View
3035816013	en	Synonym (core metadata concept)	Spondyloepimetaphyseal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13280448022) - 254062008 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (473074027) - 254062008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3302669027) - 254062008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579372022) - 254062008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4979735027) - 254062008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989577021) - 254062008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023390029) - 254062008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533976021) - 254062008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533977028) - 254062008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579367029) - 254062008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3302668024) - 254062008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736322021) - 254062008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473075026) - 254062008 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74152028) - 254062008 -> 28681006 (116680003) View
116680003 \|Is a (attribute)\|	28681006 \|Metaphyseal chondrodysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
28681006 View
28681006	Metaphyseal chondrodysplasia (disorder)	Metaphyseal dysostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1286833006 View
1286833006	Spondyloepimetaphyseal dysplasia with joint laxity beighton type (disorder)	Spondyloepimetaphyseal dysplasia with joint laxity type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1286834000 View
1286834000	Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6b type (disorder)	Spondyloepimetaphyseal dysplasia with joint laxity type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1220595008 View
1220595008	Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder)	Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187303004 View
1187303004	Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder)	Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782821004 View
782821004	Spondyloepimetaphyseal dysplasia isidor type (disorder)	Spondyloepimetaphyseal dysplasia isidor type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770603000 View
770603000	X-linked spondyloepimetaphyseal dysplasia (disorder)	X-linked spondyloepimetaphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773300008 View
773300008	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder)	Whyte syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773302000 View
773302000	Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)	Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773303005 View
773303005	Spondyloepimetaphyseal dysplasia genevieve type (disorder)	Spondyloepimetaphyseal dysplasia genevieve type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773693005 View
773693005	Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder)	Spondylo-megaepiphyseal-metaphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763885008 View
763885008	Spondyloepimetaphyseal dysplasia handigodu type (disorder)	Spondyloepimetaphyseal dysplasia handigodu type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764460003 View
764460003	Spondyloepimetaphyseal dysplasia anauxetic type (disorder)	Anauxetic dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765204000 View
765204000	Dyssegmental dysplasia silverman handmaker type (disorder)	Dyssegmental dysplasia silverman handmaker type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766820007 View
766820007	Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder)	Spondyloepimetaphyseal dysplasia with joint laxity type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766821006 View
766821006	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766874001 View
766874001	Cono-spondylar dysplasia (disorder)	Cono-spondylar dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719165004 View
719165004	Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	Spondyloepimetaphyseal dysplasia aggrecan type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719166003 View
719166003	Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Spondyloepimetaphyseal dysplasia matrilin-3 type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719171005 View
719171005	Spondyloepimetaphyseal dysplasia missouri type (disorder)	Spondyloepimetaphyseal dysplasia type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719172003 View
719172003	Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Spondyloepimetaphyseal dysplasia papss2 type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719201004 View
719201004	Spondyloepimetaphyseal dysplasia shohat type (disorder)	Spondyloepimetaphyseal dysplasia shohat type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720826006 View
720826006	Czech dysplasia metatarsal type (disorder)	Czech dysplasia metatarsal type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715862006 View
715862006	Smith mccort dysplasia (disorder)	Smith mccort dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717330004 View
717330004	Spondyloepimetaphyseal dysplasia irapa type (disorder)	Spondyloepimetaphyseal dysplasia irapa type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702400006 View
702400006	Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	Humero-spinal dysostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
389161008 View
389161008	Sponastrime dysplasia (disorder)	Sponastrime dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
22567005 View
22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)	Sed syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
51952004 View
51952004	Spondyloepiphyseal dysplasia tarda (disorder)	Spondyloepiphyseal dysplasia tarda	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
82699004 View
82699004	Dyggve-melchior-clausen syndrome (disorder)	Dyggve-melchior-clausen syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
95243004 View
95243004	Rolland-debuqois syndrome (disorder)	Rolland-debuqois syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254060000 View
254060000	Otospondylomegaepiphyseal dysplasia (disorder)	Otospondylomegaepiphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254064009 View
254064009	Namaqualand hip dysplasia (disorder)	Namaqualand hip dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254065005 View
254065005	Progressive pseudorheumatoid dysplasia (disorder)	Progressive pseudorheumatoid dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254067002 View
254067002	Immuno-osseous dysplasia (disorder)	Immuno-osseous dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254068007 View
254068007	Opsismodysplasia (disorder)	Opsismodysplasia	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 (40de71ed-2c7d-55ba-8266-5cac7c11130a) 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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