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Terminology chevron_right Concepts chevron_right 1286833006

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Component

1286833006

The component that hold information about this concept.

Fully Specified Name (FSN)

Spondyloepimetaphyseal dysplasia with joint laxity beighton type (disorder)

Shortest Term

Spondyloepimetaphyseal dysplasia with joint laxity type 1

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 dysplasia with joint laxity beighton type (disorder)

SCTID: 1286833006, Primitive, Active

1286833006|Spondyloepimetaphyseal dysplasia with joint laxity beighton type (disorder)|

en Semdjl1 - spondyloepimetaphyseal dysplasia with joint laxity type 1
en Spondyloepimetaphyseal dysplasia with joint laxity beighton type
en Spondyloepimetaphyseal dysplasia with joint laxity beighton type (disorder)
en Spondyloepimetaphyseal dysplasia with joint laxity type 1

Expression

1286833006 |Spondyloepimetaphyseal dysplasia with joint laxity beighton type (disorder)|
 <<< 254062008 |Spondyloepimetaphyseal disorder (disorder)| + 
298181000 |Range of joint movement increased (finding)| + 
298203008 |Joint laxity (finding)| + 
298385001 |Finding of vertebra (finding)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
38850007 |Chronic arthropathy (disorder)| + 
60342002 |Movement disorder (disorder)| + 
699699005 |Disorder of vertebral column (disorder)| + 
74877002 |Congenital anomaly of spine (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
896859007 |Structural abnormality of axial skeleton (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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 420345000 |Bone structure of vertebra (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 50373000 |Body height measure (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 35105006 |Increased (qualifier value)|,
363714003 |Interprets (attribute)| = 364564000 |Range of joint movement (observable entity)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 39352004 |Joint structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5255577012 - SEMDJL1 - spondyloepimetaphyseal dysplasia with joint laxity type 1 (en) View
5255577012	en	Synonym (core metadata concept)	SEMDJL1 - spondyloepimetaphyseal dysplasia with joint laxity type 1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5255575016 - Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (en) View
5255575016	en	Synonym (core metadata concept)	Spondyloepimetaphyseal dysplasia with joint laxity Beighton type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5255576015 - Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder) (en) View
5255576015	en	Fully specified name (core metadata concept)	Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5255583010 - Spondyloepimetaphyseal dysplasia with joint laxity type 1 (en) View
5255583010	en	Synonym (core metadata concept)	Spondyloepimetaphyseal dysplasia with joint laxity type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16353592023) - 1286833006 -> 896859007 (116680003) View
116680003 \|Is a (attribute)\|	896859007 \|Structural abnormality of axial skeleton (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698516028) - 1286833006 -> 254062008 (116680003) View
116680003 \|Is a (attribute)\|	254062008 \|Spondyloepimetaphyseal disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698517021) - 1286833006 -> 298181000 (116680003) View
116680003 \|Is a (attribute)\|	298181000 \|Range of joint movement increased (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698518027) - 1286833006 -> 298203008 (116680003) View
116680003 \|Is a (attribute)\|	298203008 \|Joint laxity (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698519024) - 1286833006 -> 298385001 (116680003) View
116680003 \|Is a (attribute)\|	298385001 \|Finding of vertebra (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698521025) - 1286833006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698522021) - 1286833006 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698523027) - 1286833006 -> 38850007 (116680003) View
116680003 \|Is a (attribute)\|	38850007 \|Chronic arthropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698524022) - 1286833006 -> 60342002 (116680003) View
116680003 \|Is a (attribute)\|	60342002 \|Movement disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698525023) - 1286833006 -> 699699005 (116680003) View
116680003 \|Is a (attribute)\|	699699005 \|Disorder of vertebral column (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698526024) - 1286833006 -> 74877002 (116680003) View
116680003 \|Is a (attribute)\|	74877002 \|Congenital anomaly of spine (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698527026) - 1286833006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698528020) - 1286833006 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698530022) - 1286833006 -> 50373000 (363714003) View
363714003 \|Interprets (attribute)\|	50373000 \|Body height measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698531021) - 1286833006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698532025) - 1286833006 -> 364564000 (363714003) View
363714003 \|Interprets (attribute)\|	364564000 \|Range of joint movement (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698533024) - 1286833006 -> 35105006 (363713009) View
363713009 \|Has interpretation (attribute)\|	35105006 \|Increased (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698534029) - 1286833006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698535028) - 1286833006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698536027) - 1286833006 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698537020) - 1286833006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698538026) - 1286833006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698539023) - 1286833006 -> 420345000 (363698007) View
363698007 \|Finding site (attribute)\|	420345000 \|Bone structure of vertebra (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698540020) - 1286833006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698541024) - 1286833006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15698542028) - 1286833006 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
896859007 View
896859007	Structural abnormality of axial skeleton (disorder)	Abnormal axial skeleton morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
60342002 View
60342002	Movement disorder (disorder)	Rối loạn vận động	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
699699005 View
699699005	Disorder of vertebral column (disorder)	Disorder of vertebral column	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
298181000 View
298181000	Range of joint movement increased (finding)	Joint hypermobility	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
298385001 View
298385001	Finding of vertebra (finding)	Finding of vertebra	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
38850007 View
38850007	Chronic arthropathy (disorder)	Bệnh khớp mạn tính	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
74877002 View
74877002	Congenital anomaly of spine (disorder)	Dị tật cột sống bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254062008 View
254062008	Spondyloepimetaphyseal disorder (disorder)	Spondyloepimetaphyseal disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
298203008 View
298203008	Joint laxity (finding)	Joint laxity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (61baa19b-cf2e-533c-a3f5-d27eef334d9e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.7	TRUE	ALWAYS Q77.7 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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