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Terminology chevron_right Concepts chevron_right 733064004

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Component

733064004

The component that hold information about this concept.

Fully Specified Name (FSN)

Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)

Shortest Term

Oslam 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

Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)

SCTID: 733064004, Primitive, Active

733064004|Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)|

en Oslam (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome
en Oslam syndrome
en Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
en Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)

Expression

733064004 |Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)|
 <<< 41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
60475009 |Congenital anomaly of limb (disorder)| + 
234339009 |Macrocytosis - no anemia (disorder)| + 
414394009 |Hereditary red blood cell disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
307576001 |Osteosarcoma of bone (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 41898006 |Erythrocyte (cell)|,
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)| = 66019005 |Limb structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 1163405004 |Osteosarcoma (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3498657016 - OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome (en) View
3498657016	en	Synonym (core metadata concept)	OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3498659018 - OSLAM syndrome (en) View
3498659018	en	Synonym (core metadata concept)	OSLAM syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3498656013 - Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (en) View
3498656013	en	Synonym (core metadata concept)	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498658014 - Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder) (en) View
3498658014	en	Fully specified name (core metadata concept)	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6994198027) - 733064004 -> 21708004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21708004 \|Osteosarcoma, no icd-o subtype (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13916118020) - 733064004 -> 1163405004 (116676008) View
116676008 \|Associated morphology (attribute)\|	1163405004 \|Osteosarcoma (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530935027) - 733064004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11187547025) - 733064004 -> 371521007 (116680003) View
116680003 \|Is a (attribute)\|	371521007 \|Disorder of bone development (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069546021) - 733064004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994195029) - 733064004 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6994199024) - 733064004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994202025) - 733064004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6994203024) - 733064004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6994204029) - 733064004 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6996013024) - 733064004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6996015028) - 733064004 -> 21708004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21708004 \|Osteosarcoma, no icd-o subtype (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6996016027) - 733064004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7076307020) - 733064004 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10530931020) - 733064004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530932029) - 733064004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530937024) - 733064004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539648022) - 733064004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539649025) - 733064004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539652022) - 733064004 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549259024) - 733064004 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994190023) - 733064004 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994191022) - 733064004 -> 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 (6994192026) - 733064004 -> 60475009 (116680003) View
116680003 \|Is a (attribute)\|	60475009 \|Congenital anomaly of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994193020) - 733064004 -> 234339009 (116680003) View
116680003 \|Is a (attribute)\|	234339009 \|Macrocytosis - no anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994194025) - 733064004 -> 307576001 (116680003) View
116680003 \|Is a (attribute)\|	307576001 \|Osteosarcoma of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994196028) - 733064004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994197021) - 733064004 -> 414394009 (116680003) View
116680003 \|Is a (attribute)\|	414394009 \|Hereditary red blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
307576001 View
307576001	Osteosarcoma of bone (disorder)	Osteosarcoma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
414394009 View
414394009	Hereditary red blood cell disorder (disorder)	Hereditary red blood cell disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept 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
234339009 View
234339009	Macrocytosis - no anemia (disorder)	Macrocytosis - no anemia	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 (8d9c4ea4-cf3f-5220-82c3-5e44faba30ec) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	C41.9	TRUE	ALWAYS C41.9 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION \| POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE	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)\|
ExtendedMap object (9eb2ae4e-ae03-5927-8fb3-56c52cc2259e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q74.8	TRUE	ALWAYS Q74.8	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)\|
ExtendedMap object (f33b4da8-ab14-5236-89d0-041af46d6ac5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D75.8	TRUE	ALWAYS D75.8	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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