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Terminology chevron_right Concepts chevron_right 1251499005

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Component

1251499005

The component that hold information about this concept.

Fully Specified Name (FSN)

Beta-1,3-galactosyltransferase 6-related spondylodysplastic ehlers-danlos syndrome (disorder)

Shortest Term

Ehlers-danlos syndrome progeroid type 2

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

Beta-1,3-galactosyltransferase 6-related spondylodysplastic ehlers-danlos syndrome (disorder)

SCTID: 1251499005, Primitive, Active

1251499005|Beta-1,3-galactosyltransferase 6-related spondylodysplastic ehlers-danlos syndrome (disorder)|

en B3galt6-related spondylodysplastic ehlers-danlos syndrome
en Beta-1,3-galactosyltransferase 6-related spondylodysplastic ehlers-danlos syndrome
en Beta-1,3-galactosyltransferase 6-related spondylodysplastic ehlers-danlos syndrome (disorder)
en Ehlers-danlos syndrome progeroid type 2

Expression

1251499005 |Beta-1,3-galactosyltransferase 6-related spondylodysplastic ehlers-danlos syndrome (disorder)|
 <<< 1251488008 |Spondylodysplastic ehlers-danlos syndrome (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
405773007 |Kyphoscoliosis deformity of spine (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (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)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 31739005 |Lateral abnormal curvature (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 289959001 |Musculoskeletal structure of spine (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 21793004 |Connective tissue structure (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)| }
        { 116676008 |Associated morphology (attribute)| = 61051007 |Anteroposterior abnormal curvature (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 289959001 |Musculoskeletal structure of spine (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5133836014 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (en) View
5133836014	en	Synonym (core metadata concept)	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5133834012 - Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (en) View
5133834012	en	Synonym (core metadata concept)	Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5133835013 - Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) (en) View
5133835013	en	Fully specified name (core metadata concept)	Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5133837017 - Ehlers-Danlos syndrome progeroid type 2 (en) View
5133837017	en	Synonym (core metadata concept)	Ehlers-Danlos syndrome progeroid type 2	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15368330022) - 1251499005 -> 1251488008 (116680003) View
116680003 \|Is a (attribute)\|	1251488008 \|Spondylodysplastic ehlers-danlos syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368331021) - 1251499005 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368332025) - 1251499005 -> 405773007 (116680003) View
116680003 \|Is a (attribute)\|	405773007 \|Kyphoscoliosis deformity of spine (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368333024) - 1251499005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368334029) - 1251499005 -> 50373000 (363714003) View
363714003 \|Interprets (attribute)\|	50373000 \|Body height measure (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368335028) - 1251499005 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368336027) - 1251499005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368337020) - 1251499005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368338026) - 1251499005 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368339023) - 1251499005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368340020) - 1251499005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368341024) - 1251499005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368342028) - 1251499005 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368343022) - 1251499005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368344027) - 1251499005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368345026) - 1251499005 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368346025) - 1251499005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368347023) - 1251499005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368348029) - 1251499005 -> 289959001 (363698007) View
363698007 \|Finding site (attribute)\|	289959001 \|Musculoskeletal structure of spine (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368349021) - 1251499005 -> 31739005 (116676008) View
116676008 \|Associated morphology (attribute)\|	31739005 \|Lateral abnormal curvature (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368350021) - 1251499005 -> 289959001 (363698007) View
363698007 \|Finding site (attribute)\|	289959001 \|Musculoskeletal structure of spine (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15368351020) - 1251499005 -> 61051007 (116676008) View
116676008 \|Associated morphology (attribute)\|	61051007 \|Anteroposterior abnormal curvature (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1251488008 View
1251488008	Spondylodysplastic ehlers-danlos syndrome (disorder)	Spondylodysplastic ehlers-danlos syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
405773007 View
405773007	Kyphoscoliosis deformity of spine (disorder)	Kyphoscoliosis deformity of spine	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
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	900000000000074008 \|Necessary but not sufficient concept 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 (83877173-23f4-5a2f-9c45-d4636a92fa07) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q79.6	TRUE	ALWAYS Q79.6 \| 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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