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Terminology chevron_right Concepts chevron_right 205496008

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Component

205496008

The component that hold information about this concept.

Fully Specified Name (FSN)

Osteogenesis imperfecta type ii (disorder)

Shortest Term

Lethal osteogenesis imperfecta

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 ii (disorder)

SCTID: 205496008, Primitive, Active

205496008|Osteogenesis imperfecta type ii (disorder)|

en Lethal osteogenesis imperfecta
en Osteogenesis imperfecta, perinatal lethal
en Osteogenesis imperfecta type ii
en Osteogenesis imperfecta, type ii
en Osteogenesis imperfecta type ii (disorder)

Expression

205496008 |Osteogenesis imperfecta type ii (disorder)|
 <<< 78314001 |Osteogenesis imperfecta (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
4694546013 - Lethal osteogenesis imperfecta (en) View
4694546013	en	Synonym (core metadata concept)	Lethal osteogenesis imperfecta	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
315121011 - Osteogenesis imperfecta, perinatal lethal (en) View
315121011	en	Synonym (core metadata concept)	Osteogenesis imperfecta, perinatal lethal	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
315122016 - Osteogenesis imperfecta type II (en) View
315122016	en	Synonym (core metadata concept)	Osteogenesis imperfecta type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
315123014 - Osteogenesis imperfecta, type II (en) View
315123014	en	Synonym (core metadata concept)	Osteogenesis imperfecta, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
590871014 - Osteogenesis imperfecta type II (disorder) (en) View
590871014	en	Fully specified name (core metadata concept)	Osteogenesis imperfecta type II (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (470213021) - 205496008 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470214026) - 205496008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3390604027) - 205496008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11292685025) - 205496008 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292686029) - 205496008 -> 83323007 (363714003) View
363714003 \|Interprets (attribute)\|	83323007 \|Bone formation, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (470215025) - 205496008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4978786028) - 205496008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4988845024) - 205496008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023284026) - 205496008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526479020) - 205496008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526480023) - 205496008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (470217022) - 205496008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3461350024) - 205496008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1721675020) - 205496008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470218028) - 205496008 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470216029) - 205496008 -> 181769001 (363698007) View
363698007 \|Finding site (attribute)\|	181769001 \|Connective tissue (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (23798026) - 205496008 -> 78314001 (116680003) View
116680003 \|Is a (attribute)\|	78314001 \|Osteogenesis imperfecta (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
78314001 View
78314001	Osteogenesis imperfecta (disorder)	Osteopsathyrosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1197018005 View
1197018005	Osteogenesis imperfecta type iic (disorder)	Osteogenesis imperfecta type iic	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
7134007 View
7134007	Osteogenesis imperfecta, dominant perinatal lethal (disorder)	Osteogenesis imperfecta type ii, dominant form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
15552004 View
15552004	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly and cataracts (disorder)	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly and cataracts	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86470003 View
86470003	Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Vrolik disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254110009 View
254110009	Osteogenesis imperfecta type iia (disorder)	Osteogenesis imperfecta type iia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254111008 View
254111008	Osteogenesis imperfecta type iib (disorder)	Osteogenesis imperfecta type iib	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (b8905116-26bc-5d16-b847-869fa0a57945) 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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