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Terminology chevron_right Concepts chevron_right 254080004

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Component

254080004

The component that hold information about this concept.

Fully Specified Name (FSN)

Epiphyseal dysplasia (disorder)

Shortest Term

Epiphyseal dysplasia

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Epiphyseal dysplasia (disorder)

SCTID: 254080004, Defined, Active

254080004|Epiphyseal dysplasia (disorder)|

en Epiphyseal dysplasia
en Epiphyseal dysplasia (disorder)

Expression

254080004 |Epiphyseal dysplasia (disorder)|
 === 105986008 |Congenital skeletal dysplasia (disorder)| + 
240172008 |Disorder of epiphysis (disorder)| + 
8447006 |Congenital anomaly of skeletal bone (disorder)| + 
128237006 |Chronic disease of musculoskeletal system (disorder)| + 
879976004 |Lesion of bone (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
378233014 - Epiphyseal dysplasia (en) View
378233014	en	Synonym (core metadata concept)	Epiphyseal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
644922010 - Epiphyseal dysplasia (disorder) (en) View
644922010	en	Fully specified name (core metadata concept)	Epiphyseal dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16413308025) - 254080004 -> 879976004 (116680003) View
116680003 \|Is a (attribute)\|	879976004 \|Lesion of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579443020) - 254080004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3469486021) - 254080004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11286651026) - 254080004 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11293118027) - 254080004 -> 128237006 (116680003) View
116680003 \|Is a (attribute)\|	128237006 \|Chronic disease of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11572524021) - 254080004 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524174020) - 254080004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4976844020) - 254080004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4987186028) - 254080004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023145029) - 254080004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9299250022) - 254080004 -> 240172008 (116680003) View
116680003 \|Is a (attribute)\|	240172008 \|Disorder of epiphysis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9299251021) - 254080004 -> 43719000 (363698007) View
363698007 \|Finding site (attribute)\|	43719000 \|Structure of epiphysis (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9299252025) - 254080004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579444025) - 254080004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3417526027) - 254080004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579441022) - 254080004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736333024) - 254080004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579442026) - 254080004 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74167029) - 254080004 -> 105986008 (116680003) View
116680003 \|Is a (attribute)\|	105986008 \|Congenital skeletal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
879976004 View
879976004	Lesion of bone (disorder)	Lesion of bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
240172008 View
240172008	Disorder of epiphysis (disorder)	Disorder of epiphysis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8447006 View
8447006	Congenital anomaly of skeletal bone (disorder)	Congenital skeletal anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
105986008 View
105986008	Congenital skeletal dysplasia (disorder)	Osteodysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128237006 View
128237006	Chronic disease of musculoskeletal system (disorder)	Chronic musculoskeletal disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1260203008 View
1260203008	Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)	Even-plus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766870005 View
766870005	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Finucane kurtz scott syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715861004 View
715861004	Dysplasia of head of femur meyer type (disorder)	Meyer dysplasia of femoral head	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716238003 View
716238003	Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Chitty hall baraitser syndrome	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 (2b6df1d3-e25d-5b26-81d7-9d91ca43397d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.9	TRUE	ALWAYS Q78.9	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 (3240faf0-d8eb-5506-a26d-f174c139f477) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.8	TRUE	ALWAYS Q78.8	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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