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Terminology chevron_right Concepts chevron_right 127328006

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Component

127328006

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital absence of skeletal bone (disorder)

Shortest Term

Congenital absence of skeletal bone

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

Congenital absence of skeletal bone (disorder)

SCTID: 127328006, Defined, Active

127328006|Congenital absence of skeletal bone (disorder)|

en Congenital absence of skeletal bone
en Congenital absence of skeletal bone (disorder)

Expression

127328006 |Congenital absence of skeletal bone (disorder)|
 === 8447006 |Congenital anomaly of skeletal bone (disorder)| + 
298350001 |Bone absent (finding)| : 
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
616010 - Congenital absence of skeletal bone (en) View
616010	en	Synonym (core metadata concept)	Congenital absence of skeletal bone	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
731403011 - Congenital absence of skeletal bone (disorder) (en) View
731403011	en	Fully specified name (core metadata concept)	Congenital absence of skeletal bone (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (695830025) - 127328006 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13186655024) - 127328006 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (695831026) - 127328006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4981902023) - 127328006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4991340029) - 127328006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5000903024) - 127328006 -> 702626005 (116680003) View
116680003 \|Is a (attribute)\|	702626005 \|Congenital absence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5000904029) - 127328006 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6096745025) - 127328006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525044023) - 127328006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (695828027) - 127328006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2224761029) - 127328006 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3406475028) - 127328006 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3406476027) - 127328006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3619071027) - 127328006 -> 298350001 (116680003) View
116680003 \|Is a (attribute)\|	298350001 \|Bone absent (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (695829024) - 127328006 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (162213026) - 127328006 -> 88230002 (116680003) View
116680003 \|Is a (attribute)\|	88230002 \|Disorder of skeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (162212020) - 127328006 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
298350001 View
298350001	Bone absent (finding)	Bone absent	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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1145447009 View
1145447009	Aplasia of bone of extremity (disorder)	Aplasia of bone of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1145450007 View
1145450007	Aplasia of bone of thorax (disorder)	Aplasia of bone of thorax	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1145454003 View
1145454003	Aplasia of bone of pelvis (disorder)	Aplasia of bone of pelvis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
770946000 View
770946000	Postaxial tetramelic oligodactyly (disorder)	Postaxial tetramelic oligodactyly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
43036001 View
43036001	Ectromelia (disorder)	Ectromelia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
89434002 View
89434002	Complete aphalangia of lower limb (disorder)	Complete aphalangia of lower limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91896009 View
91896009	Congenital absence of mandible (disorder)	Agenesis of mandible	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
59070002 View
59070002	Partial aphalangia of lower limb (disorder)	Partial aphalangia of lower limb	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70974002 View
70974002	Congenital absence of rib (disorder)	Agenesis of rib	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91887009 View
91887009	Congenital absence of hyoid bone (disorder)	Agenesis of hyoid bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91920008 View
91920008	Congenital absence of vomer (disorder)	Agenesis of vomer	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
841002 View
841002	Congenital absence of skull bone (disorder)	Congenital absence of skull bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
6688006 View
6688006	Congenital absence of patella (disorder)	Congenital absence of patella	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
12252009 View
12252009	Congenital absence of sternum (disorder)	Congenital absence of sternum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
15843004 View
15843004	Congenital absence of vertebra (disorder)	Agenesis of vertebra	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
45482001 View
45482001	Partial aphalangia of upper limb (disorder)	Partial aphalangia of upper limb	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
47276000 View
47276000	Congenital absence of femur (disorder)	Agenesis of femur	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
47713000 View
47713000	Congenital absence of humerus (disorder)	Agenesis of humerus	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
52022007 View
52022007	Congenital absence of ulna (disorder)	Ulnar hemimelia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
68359008 View
68359008	Congenital hemivertebra (disorder)	Congenital hemivertebra	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
74245009 View
74245009	Congenital absence of fibula (disorder)	Agenesis of fibula	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
75311005 View
75311005	Congenital absence of ossicles of ear (disorder)	Agenesis of auditory ossicles	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
79177001 View
79177001	Congenital absence of tibia (disorder)	Tibial hemimelia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
84918006 View
84918006	Congenital absence of radius (disorder)	Radial hemimelia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91873009 View
91873009	Congenital absence of carpal bone (disorder)	Agenesis of carpal bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91888004 View
91888004	Congenital absence of ilium (disorder)	Agenesis of ilium	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91891004 View
91891004	Congenital absence of ischium (disorder)	Agenesis of ischium	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91898005 View
91898005	Congenital absence of metacarpal bone (disorder)	Agenesis of metacarpal bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91905002 View
91905002	Congenital absence of pubis (disorder)	Agenesis of pubis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91908000 View
91908000	Congenital absence of scapula (disorder)	Agenesis of scapula	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
91914007 View
91914007	Congenital absence of tarsal bone (disorder)	Agenesis of tarsal bone	900000000000073002 \|Sufficiently defined by necessary conditions 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 (685f9900-8c5c-5259-a637-f5bcf18b2db5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|
ExtendedMap object (988088ee-9e5a-5f17-a7eb-662311da2c50) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q79.9	TRUE	ALWAYS Q79.9	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)\|

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