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Terminology chevron_right Concepts chevron_right 254110009

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Component

254110009

The component that hold information about this concept.

Fully Specified Name (FSN)

Osteogenesis imperfecta type iia (disorder)

Shortest Term

Osteogenesis imperfecta type iia

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 iia (disorder)

SCTID: 254110009, Primitive, Active

254110009|Osteogenesis imperfecta type iia (disorder)|

en Osteogenesis imperfecta congenita neonatal lethal form
en Osteogenesis imperfecta, neonatal lethal
en Osteogenesis imperfecta type iia
en Osteogenesis imperfecta type iia (disorder)

Expression

254110009 |Osteogenesis imperfecta type iia (disorder)|
 <<< 205496008 |Osteogenesis imperfecta type ii (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
378270017 - Osteogenesis imperfecta congenita neonatal lethal form (en) View
378270017	en	Synonym (core metadata concept)	Osteogenesis imperfecta congenita neonatal lethal form	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
378271018 - Osteogenesis imperfecta, neonatal lethal (en) View
378271018	en	Synonym (core metadata concept)	Osteogenesis imperfecta, neonatal lethal	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
378269018 - Osteogenesis imperfecta type IIA (en) View
378269018	en	Synonym (core metadata concept)	Osteogenesis imperfecta type IIA	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
644956016 - Osteogenesis imperfecta type IIA (disorder) (en) View
644956016	en	Fully specified name (core metadata concept)	Osteogenesis imperfecta type IIA (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (579579025) - 254110009 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579580027) - 254110009 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3394094025) - 254110009 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11292632021) - 254110009 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292633027) - 254110009 -> 83323007 (363714003) View
363714003 \|Interprets (attribute)\|	83323007 \|Bone formation, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579584020) - 254110009 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4982959020) - 254110009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4992195026) - 254110009 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023628024) - 254110009 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522656029) - 254110009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522657022) - 254110009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579582024) - 254110009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3394095029) - 254110009 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736361029) - 254110009 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579581028) - 254110009 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579583025) - 254110009 -> 181769001 (363698007) View
363698007 \|Finding site (attribute)\|	181769001 \|Connective tissue (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74205028) - 254110009 -> 205496008 (116680003) View
116680003 \|Is a (attribute)\|	205496008 \|Osteogenesis imperfecta type ii (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
205496008 View
205496008	Osteogenesis imperfecta type ii (disorder)	Lethal osteogenesis imperfecta	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 (2cee32bf-3b75-5947-b0c9-e19bc9d03d93) 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)\|

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