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Terminology chevron_right Concepts chevron_right 4409006

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Component

4409006

The component that hold information about this concept.

Fully Specified Name (FSN)

Adenosylcobalamin and methylcobalamin synthesis defect (disorder)

Shortest Term

Adenosylcobalamin and methylcobalamin synthesis defect

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

Adenosylcobalamin and methylcobalamin synthesis defect (disorder)

SCTID: 4409006, Primitive, Active

4409006|Adenosylcobalamin and methylcobalamin synthesis defect (disorder)|

en Adenosylcobalamin and methylcobalamin synthesis defect
en Adenosylcobalamin and methylcobalamin synthesis defect (disorder)
en Combined methylmalonic acidaemia and homocystinuria due to defects in adenosylcobalamin and methylcobalamin synthesis
en Combined methylmalonic acidemia and homocystinuria due to defects in adenosylcobalamin and methylcobalamin synthesis

Expression

4409006 |Adenosylcobalamin and methylcobalamin synthesis defect (disorder)|
 <<< 42393006 |Methylmalonic acidemia (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
7715018 - Adenosylcobalamin and methylcobalamin synthesis defect (en) View
7715018	en	Synonym (core metadata concept)	Adenosylcobalamin and methylcobalamin synthesis defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
781178011 - Adenosylcobalamin and methylcobalamin synthesis defect (disorder) (en) View
781178011	en	Fully specified name (core metadata concept)	Adenosylcobalamin and methylcobalamin synthesis defect (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
493787010 - Combined methylmalonic acidaemia and homocystinuria due to defects in adenosylcobalamin and methylcobalamin synthesis (en) View
493787010	en	Synonym (core metadata concept)	Combined methylmalonic acidaemia and homocystinuria due to defects in adenosylcobalamin and methylcobalamin synthesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
493788017 - Combined methylmalonic acidemia and homocystinuria due to defects in adenosylcobalamin and methylcobalamin synthesis (en) View
493788017	en	Synonym (core metadata concept)	Combined methylmalonic acidemia and homocystinuria due to defects in adenosylcobalamin and methylcobalamin synthesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
7716017 - Adenosylcobalamin and methylcobalamin synthesis defect, NOS (en) View
7716017	en	Synonym (core metadata concept)	Adenosylcobalamin and methylcobalamin synthesis defect, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (782280020) - 4409006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (782281024) - 4409006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (219836026) - 4409006 -> 42393006 (116680003) View
116680003 \|Is a (attribute)\|	42393006 \|Methylmalonic acidemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
42393006 View
42393006	Methylmalonic acidemia (disorder)	Methylmalonic acidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
31220004 View
31220004	Cobalamin d disease (disorder)	Cobalamin d disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
73843004 View
73843004	Cobalamin a disease (disorder)	Cobalamin a disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
74653006 View
74653006	Cobalamin c disease (disorder)	Cobalamin c disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80887004 View
80887004	Inherited methylmalonic acidemia and homocystinuria (disorder)	Cobalamin locus f variant	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 (f5661ae8-c60a-53d6-b9a3-66095b071673) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E71.1	TRUE	ALWAYS E71.1	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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