dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 1003379004

Production

add

Component

1003379004

The component that hold information about this concept.

Fully Specified Name (FSN)

Osteogenesis imperfecta type 5 (disorder)

Shortest Term

Osteogenesis imperfecta type 5

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

Osteogenesis imperfecta type 5 (disorder)

SCTID: 1003379004, Primitive, Active

1003379004|Osteogenesis imperfecta type 5 (disorder)|

en Osteogenesis imperfecta type 5
en Osteogenesis imperfecta type 5 (disorder)
en Osteogenesis imperfecta type v

Expression

1003379004 |Osteogenesis imperfecta type 5 (disorder)|
 <<< 1899006 |Autosomal hereditary disorder (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
78314001 |Osteogenesis imperfecta (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| : 
        { 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)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 83323007 |Bone formation, function (observable entity)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4168116014 - Osteogenesis imperfecta type 5 (en) View
4168116014	en	Synonym (core metadata concept)	Osteogenesis imperfecta type 5	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4168115013 - Osteogenesis imperfecta type 5 (disorder) (en) View
4168115013	en	Fully specified name (core metadata concept)	Osteogenesis imperfecta type 5 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4165353011 - Osteogenesis imperfecta type V (en) View
4165353011	en	Synonym (core metadata concept)	Osteogenesis imperfecta type V	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13187528027) - 1003379004 -> 118228005 (116680003) View
116680003 \|Is a (attribute)\|	118228005 \|Functional finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13185167029) - 1003379004 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185168023) - 1003379004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185169026) - 1003379004 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185171026) - 1003379004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185172022) - 1003379004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185173028) - 1003379004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185174023) - 1003379004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185175024) - 1003379004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185176020) - 1003379004 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13187529024) - 1003379004 -> 78314001 (116680003) View
116680003 \|Is a (attribute)\|	78314001 \|Osteogenesis imperfecta (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13187530025) - 1003379004 -> 83323007 (363714003) View
363714003 \|Interprets (attribute)\|	83323007 \|Bone formation, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280664022) - 1003379004 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	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
78314001 View
78314001	Osteogenesis imperfecta (disorder)	Osteopsathyrosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1899006 View
1899006	Autosomal hereditary disorder (disorder)	Autosomal hereditary disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	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 (d5649a83-c3de-51d4-aeac-c092d6ef4306) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.0	TRUE	ALWAYS Q78.0	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)\|

Terminology chevron_right Concepts chevron_right 1003379004

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches