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Terminology chevron_right Concepts chevron_right 720984008

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Component

720984008

The component that hold information about this concept.

Fully Specified Name (FSN)

Angel-shaped phalangoepiphyseal dysplasia (disorder)

Shortest Term

Angel-shaped phalangoepiphyseal dysplasia

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

Angel-shaped phalangoepiphyseal dysplasia (disorder)

SCTID: 720984008, Primitive, Active

720984008|Angel-shaped phalangoepiphyseal dysplasia (disorder)|

en Angel-shaped phalango-epiphyseal dysplasia
en Angel-shaped phalangoepiphyseal dysplasia
en Angel-shaped phalangoepiphyseal dysplasia (disorder)
en Asped - angel-shaped phalango-epiphyseal dysplasia

Expression

720984008 |Angel-shaped phalangoepiphyseal dysplasia (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
105986008 |Congenital skeletal dysplasia (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
88631000119105 |Congenital dysplasia of limb (disorder)| + 
897432004 |Structural abnormality of bone of limb (disorder)| + 
879976004 |Lesion of bone (disorder)| + 
8447006 |Congenital anomaly of skeletal bone (disorder)| : 
        { 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
3322779017 - Angel-shaped phalango-epiphyseal dysplasia (en) View
3322779017	en	Synonym (core metadata concept)	Angel-shaped phalango-epiphyseal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3322778013 - Angel-shaped phalangoepiphyseal dysplasia (en) View
3322778013	en	Synonym (core metadata concept)	Angel-shaped phalangoepiphyseal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3322777015 - Angel-shaped phalangoepiphyseal dysplasia (disorder) (en) View
3322777015	en	Fully specified name (core metadata concept)	Angel-shaped phalangoepiphyseal dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3322780019 - ASPED - angel-shaped phalango-epiphyseal dysplasia (en) View
3322780019	en	Synonym (core metadata concept)	ASPED - angel-shaped phalango-epiphyseal dysplasia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16413235021) - 720984008 -> 879976004 (116680003) View
116680003 \|Is a (attribute)\|	879976004 \|Lesion of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16379352027) - 720984008 -> 897432004 (116680003) View
116680003 \|Is a (attribute)\|	897432004 \|Structural abnormality of bone of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688091029) - 720984008 -> 60475009 (116680003) View
116680003 \|Is a (attribute)\|	60475009 \|Congenital anomaly of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15681427021) - 720984008 -> 88631000119105 (116680003) View
116680003 \|Is a (attribute)\|	88631000119105 \|Congenital dysplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069285029) - 720984008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688095022) - 720984008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226534021) - 720984008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286270025) - 720984008 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688093026) - 720984008 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526595023) - 720984008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688089021) - 720984008 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688090028) - 720984008 -> 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 (6688092020) - 720984008 -> 105986008 (116680003) View
116680003 \|Is a (attribute)\|	105986008 \|Congenital skeletal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688094021) - 720984008 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688096023) - 720984008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688097025) - 720984008 -> 48566001 (363698007) View
363698007 \|Finding site (attribute)\|	48566001 \|Bone structure of extremity (body structure)\|	1	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
879976004 View
879976004	Lesion of bone (disorder)	Lesion of bone	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
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
105986008 View
105986008	Congenital skeletal dysplasia (disorder)	Osteodysplasia	900000000000073002 \|Sufficiently defined by necessary conditions 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 (84a5f7f1-5dd1-5660-8899-099d75df7e33) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.8	TRUE	ALWAYS Q78.8 \| 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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