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Terminology chevron_right Concepts chevron_right 59708000

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Component

59708000

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple epiphyseal dysplasia (disorder)

Shortest Term

Multiple epiphyseal 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

Multiple epiphyseal dysplasia (disorder)

SCTID: 59708000, Primitive, Active

59708000|Multiple epiphyseal dysplasia (disorder)|

en Multiple epiphyseal dysplasia
en Multiple epiphyseal dysplasia (disorder)
en Fairbanks-ribbing type epiphyseal dysplasia
en Med - multiple epiphyseal dysplasia

Expression

59708000 |Multiple epiphyseal dysplasia (disorder)|
 <<< 254080004 |Epiphyseal dysplasia (disorder)| + 
51952004 |Spondyloepiphyseal dysplasia tarda (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43719000 |Structure of epiphysis (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (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
99192010 - Multiple epiphyseal dysplasia (en) View
99192010	en	Synonym (core metadata concept)	Multiple epiphyseal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
798580016 - Multiple epiphyseal dysplasia (disorder) (en) View
798580016	en	Fully specified name (core metadata concept)	Multiple epiphyseal dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1231992015 - Fairbanks-Ribbing type epiphyseal dysplasia (en) View
1231992015	en	Synonym (core metadata concept)	Fairbanks-Ribbing type epiphyseal dysplasia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1231993013 - MED - Multiple epiphyseal dysplasia (en) View
1231993013	en	Synonym (core metadata concept)	MED - Multiple epiphyseal dysplasia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13280392023) - 59708000 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (532224027) - 59708000 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3452902028) - 59708000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11576895023) - 59708000 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (822547024) - 59708000 -> 43719000 (363698007) View
363698007 \|Finding site (attribute)\|	43719000 \|Structure of epiphysis (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4996251026) - 59708000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6080976022) - 59708000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6176489023) - 59708000 -> 43719000 (363698007) View
363698007 \|Finding site (attribute)\|	43719000 \|Structure of epiphysis (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531677021) - 59708000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531678027) - 59708000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2694482021) - 59708000 -> 240172008 (116680003) View
116680003 \|Is a (attribute)\|	240172008 \|Disorder of epiphysis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3292070025) - 59708000 -> 43719000 (363698007) View
363698007 \|Finding site (attribute)\|	43719000 \|Structure of epiphysis (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979738025) - 59708000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989579024) - 59708000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023391025) - 59708000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (822546026) - 59708000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3080156020) - 59708000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2950407028) - 59708000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3080157027) - 59708000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2956629025) - 59708000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2956630024) - 59708000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1772436022) - 59708000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2268458022) - 59708000 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (532225026) - 59708000 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (245222027) - 59708000 -> 254080004 (116680003) View
116680003 \|Is a (attribute)\|	254080004 \|Epiphyseal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (245223021) - 59708000 -> 51952004 (116680003) View
116680003 \|Is a (attribute)\|	51952004 \|Spondyloepiphyseal dysplasia tarda (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
254080004 View
254080004	Epiphyseal dysplasia (disorder)	Epiphyseal dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions 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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1363114004 View
1363114004	Multiple epiphyseal dysplasia type 7 (disorder)	Multiple epiphyseal dysplasia type 7	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763893008 View
763893008	Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder)	Multiple epiphyseal dysplasia with severe proximal femoral dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766717008 View
766717008	Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder)	Multiple epiphyseal dysplasia due to collagen 9 anomaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766750008 View
766750008	Multiple epiphyseal dysplasia with miniepiphyses (disorder)	Multiple epiphyseal dysplasia with miniepiphyses	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
768935003 View
768935003	Multiple epiphyseal dysplasia lowry type (disorder)	Multiple epiphyseal dysplasia lowry type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719688002 View
719688002	Multiple epiphyseal dysplasia al-gazali type (disorder)	Multiple epiphyseal dysplasia al-gazali type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719689005 View
719689005	Multiple epiphyseal dysplasia beighton type (disorder)	Multiple epiphyseal dysplasia beighton type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720863002 View
720863002	Eiken syndrome (disorder)	Eiken syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721148005 View
721148005	Hip dysplasia beukes type (disorder)	Hip dysplasia beukes type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721975004 View
721975004	Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Lowry wood syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715672007 View
715672007	Multiple epiphyseal dysplasia type 4 (disorder)	Multiple epiphyseal dysplasia type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715673002 View
715673002	Multiple epiphyseal dysplasia type 1 (disorder)	Polyepiphyseal dysplasia type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715674008 View
715674008	Multiple epiphyseal dysplasia type 5 (disorder)	Polyepiphyseal dysplasia type 5	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254066006 View
254066006	Wolcott-rallison dysplasia (disorder)	Wolcott-rallison syndrome	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 (cdbbc822-55c3-5e46-90b3-b828e4a663a4) 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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