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Terminology chevron_right Concepts chevron_right 7134007

Production

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Component

7134007

The component that hold information about this concept.

Fully Specified Name (FSN)

Osteogenesis imperfecta, dominant perinatal lethal (disorder)

Shortest Term

Osteogenesis imperfecta type ii, dominant form

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, dominant perinatal lethal (disorder)

SCTID: 7134007, Primitive, Active

7134007|Osteogenesis imperfecta, dominant perinatal lethal (disorder)|

en Neonatal lethal osteogenesis imperfecta congenita
en Osteogenesis imperfecta, dominant perinatal lethal
en Osteogenesis imperfecta, dominant perinatal lethal (disorder)
en Osteogenesis imperfecta type ii, dominant form

Expression

7134007 |Osteogenesis imperfecta, dominant perinatal lethal (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
12772019 - Neonatal lethal osteogenesis imperfecta congenita (en) View
12772019	en	Synonym (core metadata concept)	Neonatal lethal osteogenesis imperfecta congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
12770010 - Osteogenesis imperfecta, dominant perinatal lethal (en) View
12770010	en	Synonym (core metadata concept)	Osteogenesis imperfecta, dominant perinatal lethal	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
811496019 - Osteogenesis imperfecta, dominant perinatal lethal (disorder) (en) View
811496019	en	Fully specified name (core metadata concept)	Osteogenesis imperfecta, dominant perinatal lethal (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
12771014 - Osteogenesis imperfecta type II, dominant form (en) View
12771014	en	Synonym (core metadata concept)	Osteogenesis imperfecta type II, dominant form	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (541676023) - 7134007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (851747020) - 7134007 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3366019027) - 7134007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11293169027) - 7134007 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11293170026) - 7134007 -> 83323007 (363714003) View
363714003 \|Interprets (attribute)\|	83323007 \|Bone formation, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (851742025) - 7134007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4980594029) - 7134007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4990230023) - 7134007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023460021) - 7134007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515830026) - 7134007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515831027) - 7134007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (851745028) - 7134007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3366020022) - 7134007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1776446021) - 7134007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (264104024) - 7134007 -> 278454001 (116680003) View
116680003 \|Is a (attribute)\|	278454001 \|Osteogenesis imperfecta, perinatal lethal (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (541678024) - 7134007 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2040663021) - 7134007 -> 205496008 (116680003) View
116680003 \|Is a (attribute)\|	205496008 \|Osteogenesis imperfecta type ii (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (851746027) - 7134007 -> 181769001 (363698007) View
363698007 \|Finding site (attribute)\|	181769001 \|Connective tissue (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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 (145d6e9f-291b-5c1f-b187-acb14f3b7681) 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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