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Terminology chevron_right Concepts chevron_right 1303865002

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Component

1303865002

The component that hold information about this concept.

Fully Specified Name (FSN)

Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)

Shortest Term

Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect 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

Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)

SCTID: 1303865002, Primitive, Active

1303865002|Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)|

en Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
en Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)

Expression

1303865002 |Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)|
 <<< 13213009 |Congenital heart disease (disorder)| + 
248298009 |Marfanoid physique (finding)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
73573004 |Congenital anomaly of musculoskeletal system (disorder)| + 
782964007 |Genetic disease (disorder)| + 
897444001 |Structural abnormality of skeleton (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113192009 |Skeletal system structure (body structure)|,
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)| = 80891009 |Heart structure (body structure)|,
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)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 248295007 |Physique type (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5308219013 - Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (en) View
5308219013	en	Synonym (core metadata concept)	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5308220019 - Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder) (en) View
5308220019	en	Fully specified name (core metadata concept)	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15899502025) - 1303865002 -> 88230002 (116680003) View
116680003 \|Is a (attribute)\|	88230002 \|Disorder of skeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16382079028) - 1303865002 -> 897444001 (116680003) View
116680003 \|Is a (attribute)\|	897444001 \|Structural abnormality of skeleton (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899497027) - 1303865002 -> 13213009 (116680003) View
116680003 \|Is a (attribute)\|	13213009 \|Congenital heart disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899498021) - 1303865002 -> 248298009 (116680003) View
116680003 \|Is a (attribute)\|	248298009 \|Marfanoid physique (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899499029) - 1303865002 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899500022) - 1303865002 -> 73573004 (116680003) View
116680003 \|Is a (attribute)\|	73573004 \|Congenital anomaly of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899501021) - 1303865002 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899503024) - 1303865002 -> 248295007 (363714003) View
363714003 \|Interprets (attribute)\|	248295007 \|Physique type (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899504029) - 1303865002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899505028) - 1303865002 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899506027) - 1303865002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899507020) - 1303865002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899508026) - 1303865002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899509023) - 1303865002 -> 80891009 (363698007) View
363698007 \|Finding site (attribute)\|	80891009 \|Heart structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899510029) - 1303865002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899511025) - 1303865002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899512021) - 1303865002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899513027) - 1303865002 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899514022) - 1303865002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15899515023) - 1303865002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897444001 View
897444001	Structural abnormality of skeleton (disorder)	Abnormal skeleton morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
13213009 View
13213009	Congenital heart disease (disorder)	Bệnh tim bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
73573004 View
73573004	Congenital anomaly of musculoskeletal system (disorder)	Congenital musculoskeletal abnormality	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
248298009 View
248298009	Marfanoid physique (finding)	Marfanoid physique	900000000000074008 \|Necessary but not sufficient concept 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 (678657d7-7940-5762-afae-334d8ad7a22b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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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