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Terminology chevron_right Concepts chevron_right 720430002

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Component

720430002

The component that hold information about this concept.

Fully Specified Name (FSN)

Acrofacial dysostosis rodriguez type (disorder)

Shortest Term

Acrofacial dysostosis rodriguez type

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

Acrofacial dysostosis rodriguez type (disorder)

SCTID: 720430002, Primitive, Active

720430002|Acrofacial dysostosis rodriguez type (disorder)|

en Acrofacial dysostosis rodriguez type
en Acrofacial dysostosis rodriguez type (disorder)

Expression

720430002 |Acrofacial dysostosis rodriguez type (disorder)|
 <<< 23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
32003007 |Congenital anomaly of face bones (disorder)| + 
67341007 |Longitudinal deficiency of limb (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
109420003 |Dysostosis (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
767811005 |Lesion of face (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
88631000119105 |Congenital dysplasia of limb (disorder)| + 
897432004 |Structural abnormality of bone of limb (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 45056002 |Abnormally short (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 243996003 |Entire limb (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)| = 91397008 |Bone structure of face (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)| = 48566001 |Bone structure of extremity (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
3320732012 - Acrofacial dysostosis Rodriguez type (en) View
3320732012	en	Synonym (core metadata concept)	Acrofacial dysostosis Rodriguez type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3320731017 - Acrofacial dysostosis Rodriguez type (disorder) (en) View
3320731017	en	Fully specified name (core metadata concept)	Acrofacial dysostosis Rodriguez type (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16379350024) - 720430002 -> 897432004 (116680003) View
116680003 \|Is a (attribute)\|	897432004 \|Structural abnormality of bone of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681425029) - 720430002 -> 88631000119105 (116680003) View
116680003 \|Is a (attribute)\|	88631000119105 \|Congenital dysplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11104991026) - 720430002 -> 276655000 (116680003) View
116680003 \|Is a (attribute)\|	276655000 \|Congenital deformity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069216022) - 720430002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6685577029) - 720430002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531361029) - 720430002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225288024) - 720430002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11225289027) - 720430002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683559020) - 720430002 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683564024) - 720430002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683565020) - 720430002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683566021) - 720430002 -> 91397008 (363698007) View
363698007 \|Finding site (attribute)\|	91397008 \|Bone structure of face (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683568022) - 720430002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6685579026) - 720430002 -> 45056002 (116676008) View
116676008 \|Associated morphology (attribute)\|	45056002 \|Abnormally short (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6685580028) - 720430002 -> 243996003 (363698007) View
363698007 \|Finding site (attribute)\|	243996003 \|Entire limb (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531354028) - 720430002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531355027) - 720430002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531356026) - 720430002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531358025) - 720430002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531359022) - 720430002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531360028) - 720430002 -> 243996003 (363698007) View
363698007 \|Finding site (attribute)\|	243996003 \|Entire limb (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531362020) - 720430002 -> 45056002 (116676008) View
116676008 \|Associated morphology (attribute)\|	45056002 \|Abnormally short (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549299022) - 720430002 -> 91397008 (363698007) View
363698007 \|Finding site (attribute)\|	91397008 \|Bone structure of face (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9410363028) - 720430002 -> 767811005 (116680003) View
116680003 \|Is a (attribute)\|	767811005 \|Lesion of face (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683554026) - 720430002 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683555025) - 720430002 -> 32003007 (116680003) View
116680003 \|Is a (attribute)\|	32003007 \|Congenital anomaly of face bones (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683556029) - 720430002 -> 67341007 (116680003) View
116680003 \|Is a (attribute)\|	67341007 \|Longitudinal deficiency of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683557022) - 720430002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683558028) - 720430002 -> 109420003 (116680003) View
116680003 \|Is a (attribute)\|	109420003 \|Dysostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683560026) - 720430002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683562023) - 720430002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6685578023) - 720430002 -> 48566001 (363698007) View
363698007 \|Finding site (attribute)\|	48566001 \|Bone structure of extremity (body structure)\|	3	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
88631000119105 View
88631000119105	Congenital dysplasia of limb (disorder)	Congenital dysplasia of limb	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
767811005 View
767811005	Lesion of face (disorder)	Facial lesion	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
67341007 View
67341007	Longitudinal deficiency of limb (disorder)	Hemimelia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
32003007 View
32003007	Congenital anomaly of face bones (disorder)	Face congenital deformities	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
109420003 View
109420003	Dysostosis (disorder)	Dysostosis	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 (03a67a6a-2cfe-5de3-bf52-139c9682305a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q75.4	TRUE	ALWAYS Q75.4 \| 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)\|
ExtendedMap object (07156299-a4b2-578d-9b0a-f9835122be9e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0	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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