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Terminology chevron_right Concepts chevron_right 782913006

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Component

782913006

The component that hold information about this concept.

Fully Specified Name (FSN)

Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)

Shortest Term

Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

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

Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)

SCTID: 782913006, Primitive, Active

782913006|Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)|

en Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
en Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)

Expression

782913006 |Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)|
 <<< 784006008 |Spondylometaphyseal dysplasia (disorder)| + 
449713008 |Bowing of upper limb (finding)| + 
879976004 |Lesion of bone (disorder)| + 
1163579007 |Congenital deformity of bone of forearm (disorder)| + 
716098006 |Congenital bowing of long bone (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (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)| = 34058006 |Bowing deformity (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 299701004 |Bone structure of radius and/or ulna (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)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3756669018 - Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (en) View
3756669018	en	Synonym (core metadata concept)	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3756670017 - Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder) (en) View
3756670017	en	Fully specified name (core metadata concept)	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16413292022) - 782913006 -> 879976004 (116680003) View
116680003 \|Is a (attribute)\|	879976004 \|Lesion of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227916023) - 782913006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227924029) - 782913006 -> 66510004 (116680003) View
116680003 \|Is a (attribute)\|	66510004 \|Congenital anomaly of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11227932021) - 782913006 -> 128132009 (116680003) View
116680003 \|Is a (attribute)\|	128132009 \|Disorder of forearm (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11227933027) - 782913006 -> 276655000 (116680003) View
116680003 \|Is a (attribute)\|	276655000 \|Congenital deformity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11326930021) - 782913006 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13920061026) - 782913006 -> 1163579007 (116680003) View
116680003 \|Is a (attribute)\|	1163579007 \|Congenital deformity of bone of forearm (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227922025) - 782913006 -> 271084006 (116680003) View
116680003 \|Is a (attribute)\|	271084006 \|Deformity of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13045018028) - 782913006 -> 716098006 (116680003) View
116680003 \|Is a (attribute)\|	716098006 \|Congenital bowing of long bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227915022) - 782913006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227917025) - 782913006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227918024) - 782913006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227919027) - 782913006 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227920022) - 782913006 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227921021) - 782913006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227923024) - 782913006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227925028) - 782913006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227929023) - 782913006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227934022) - 782913006 -> 449713008 (116680003) View
116680003 \|Is a (attribute)\|	449713008 \|Bowing of upper limb (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11326931020) - 782913006 -> 784006008 (116680003) View
116680003 \|Is a (attribute)\|	784006008 \|Spondylometaphyseal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578306029) - 782913006 -> 34058006 (116676008) View
116676008 \|Associated morphology (attribute)\|	34058006 \|Bowing deformity (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578307022) - 782913006 -> 299701004 (363698007) View
363698007 \|Finding site (attribute)\|	299701004 \|Bone structure of radius and/or ulna (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578308028) - 782913006 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578309020) - 782913006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1163579007 View
1163579007	Congenital deformity of bone of forearm (disorder)	Congenital deformity of bone of forearm	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
879976004 View
879976004	Lesion of bone (disorder)	Lesion of bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
784006008 View
784006008	Spondylometaphyseal dysplasia (disorder)	Spondylometaphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716098006 View
716098006	Congenital bowing of long bone (disorder)	Congenital bowing of long bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
449713008 View
449713008	Bowing of upper limb (finding)	Bowing of upper limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept 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

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 (3fc098b2-d11a-52ad-8432-4ca1e5ed4c53) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.8	TRUE	ALWAYS Q77.8 \| 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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