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Terminology chevron_right Concepts chevron_right 720599002

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Component

720599002

The component that hold information about this concept.

Fully Specified Name (FSN)

Campomelia cumming type (disorder)

Shortest Term

Cumming 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

Campomelia cumming type (disorder)

SCTID: 720599002, Primitive, Active

720599002|Campomelia cumming type (disorder)|

en Campomelia cumming type
en Campomelia cumming type (disorder)
en Cumming syndrome

Expression

720599002 |Campomelia cumming type (disorder)|
 <<< 234097001 |Lymphedema (disorder)| + 
60475009 |Congenital anomaly of limb (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
278832007 |Bent bone dysplasia group (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
445144002 |Deformity of limb (finding)| + 
897432004 |Structural abnormality of bone of limb (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
1344689004 |Congenital deformity of musculoskeletal system (disorder)| + 
298356007 |Deformation of bone (finding)| : 
        { 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)| = 38392006 |Congenital abnormal curvature (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 48566001 |Bone structure of extremity (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 30213001 |Lymphatic edema (morphologic abnormality)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3321491012 - Campomelia Cumming type (en) View
3321491012	en	Synonym (core metadata concept)	Campomelia Cumming type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3321490013 - Campomelia Cumming type (disorder) (en) View
3321490013	en	Fully specified name (core metadata concept)	Campomelia Cumming type (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3321492017 - Cumming syndrome (en) View
3321492017	en	Synonym (core metadata concept)	Cumming syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16379351023) - 720599002 -> 897432004 (116680003) View
116680003 \|Is a (attribute)\|	897432004 \|Structural abnormality of bone of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10591007023) - 720599002 -> 276655000 (116680003) View
116680003 \|Is a (attribute)\|	276655000 \|Congenital deformity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16176217023) - 720599002 -> 1344689004 (116680003) View
116680003 \|Is a (attribute)\|	1344689004 \|Congenital deformity of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681119022) - 720599002 -> 271084006 (116680003) View
116680003 \|Is a (attribute)\|	271084006 \|Deformity of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15803792025) - 720599002 -> 298356007 (116680003) View
116680003 \|Is a (attribute)\|	298356007 \|Deformation of bone (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681118025) - 720599002 -> 254199006 (116680003) View
116680003 \|Is a (attribute)\|	254199006 \|Hereditary lymphedema (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15143088024) - 720599002 -> 234097001 (116680003) View
116680003 \|Is a (attribute)\|	234097001 \|Lymphedema (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069243028) - 720599002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681114028) - 720599002 -> 30213001 (116676008) View
116676008 \|Associated morphology (attribute)\|	30213001 \|Lymphatic edema (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539752029) - 720599002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226276028) - 720599002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681121028) - 720599002 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681124020) - 720599002 -> 38392006 (116676008) View
116676008 \|Associated morphology (attribute)\|	38392006 \|Congenital abnormal curvature (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681125021) - 720599002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681126022) - 720599002 -> 48566001 (363698007) View
363698007 \|Finding site (attribute)\|	48566001 \|Bone structure of extremity (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681127029) - 720599002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681128023) - 720599002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681129026) - 720599002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531638023) - 720599002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531640029) - 720599002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531642021) - 720599002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531644022) - 720599002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539751020) - 720599002 -> 48566001 (363698007) View
363698007 \|Finding site (attribute)\|	48566001 \|Bone structure of extremity (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539753023) - 720599002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539754028) - 720599002 -> 38392006 (116676008) View
116676008 \|Associated morphology (attribute)\|	38392006 \|Congenital abnormal curvature (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681115027) - 720599002 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681116026) - 720599002 -> 60475009 (116680003) View
116680003 \|Is a (attribute)\|	60475009 \|Congenital anomaly of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681117024) - 720599002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681120027) - 720599002 -> 278832007 (116680003) View
116680003 \|Is a (attribute)\|	278832007 \|Bent bone dysplasia group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681122024) - 720599002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681123025) - 720599002 -> 445144002 (116680003) View
116680003 \|Is a (attribute)\|	445144002 \|Deformity of limb (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897432004 View
897432004	Structural abnormality of bone of limb (disorder)	Abnormal limb bone morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1344689004 View
1344689004	Congenital deformity of musculoskeletal system (disorder)	Congenital deformity of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
298356007 View
298356007	Deformation of bone (finding)	Deformity of bone	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
445144002 View
445144002	Deformity of limb (finding)	Deformity of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
234097001 View
234097001	Lymphedema (disorder)	Lymphedema	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
60475009 View
60475009	Congenital anomaly of limb (disorder)	Congenital anomaly of limb	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
278832007 View
278832007	Bent bone dysplasia group (disorder)	Bent bone dysplasia group	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 (a39d1c35-f8f0-5b45-9799-006fc7bd52ad) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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