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Terminology chevron_right Concepts chevron_right 1142087002

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Component

1142087002

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital megaloblastic anemia due to transcobalamin ii deficiency (disorder)

Shortest Term

Congenital megaloblastic anemia due to transcobalamin ii deficiency

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital megaloblastic anemia due to transcobalamin ii deficiency (disorder)

SCTID: 1142087002, Defined, Active

1142087002|Congenital megaloblastic anemia due to transcobalamin ii deficiency (disorder)|

en Congenital megaloblastic anaemia due to transcobalamin ii deficiency
en Congenital megaloblastic anemia due to transcobalamin ii deficiency
en Congenital megaloblastic anemia due to transcobalamin ii deficiency (disorder)

Expression

1142087002 |Congenital megaloblastic anemia due to transcobalamin ii deficiency (disorder)|
 === 66612000 |Nutritional anemia (disorder)| + 
34925000 |Megaloblastic anemia due to inborn errors of metabolism (disorder)| + 
737220002 |Anemia due to metabolic disorder (disorder)|
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 42752001 |Due to (attribute)| = 237934001 |Transcobalamin ii deficiency (disorder)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 14089001 |Red blood cell count (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4536590019 - Congenital megaloblastic anaemia due to transcobalamin II deficiency (en) View
4536590019	en	Synonym (core metadata concept)	Congenital megaloblastic anaemia due to transcobalamin II deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
4536589011 - Congenital megaloblastic anemia due to transcobalamin II deficiency (en) View
4536589011	en	Synonym (core metadata concept)	Congenital megaloblastic anemia due to transcobalamin II deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
4536588015 - Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder) (en) View
4536588015	en	Fully specified name (core metadata concept)	Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13651470029) - 1142087002 -> 66612000 (116680003) View
116680003 \|Is a (attribute)\|	66612000 \|Nutritional anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13651471025) - 1142087002 -> 34925000 (116680003) View
116680003 \|Is a (attribute)\|	34925000 \|Megaloblastic anemia due to inborn errors of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13651476024) - 1142087002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13651477026) - 1142087002 -> 237934001 (42752001) View
42752001 \|Due to (attribute)\|	237934001 \|Transcobalamin ii deficiency (disorder)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13651478020) - 1142087002 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13651479028) - 1142087002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13651480025) - 1142087002 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13651481026) - 1142087002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13713027028) - 1142087002 -> 737220002 (116680003) View
116680003 \|Is a (attribute)\|	737220002 \|Anemia due to metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
737220002 View
737220002	Anemia due to metabolic disorder (disorder)	Metabolic anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
66612000 View
66612000	Nutritional anemia (disorder)	Nutritional anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
34925000 View
34925000	Megaloblastic anemia due to inborn errors of metabolism (disorder)	Congenital pernicious anemia	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 (75453dc2-dbfb-5d0d-872f-c640bcebbb1c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D51.2	TRUE	ALWAYS D51.2	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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