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Terminology chevron_right Concepts chevron_right 69614003

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Component

69614003

The component that hold information about this concept.

Fully Specified Name (FSN)

Adenosylcobalamin synthesis defect (disorder)

Shortest Term

Methylmalonic aciduria, type ii

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 synthesis defect (disorder)

SCTID: 69614003, Primitive, Active

69614003|Adenosylcobalamin synthesis defect (disorder)|

en Adenosylcobalamin synthesis defect
en Adenosylcobalamin synthesis defect (disorder)
en Methylmalonic acidaemia due to defects in adenosylcobalamin biosynthesis
en Methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis
en Vitamin b12-responsive methylmalonic acidaemia
en Vitamin b12-responsive methylmalonic acidemia
en Methylmalonic aciduria, type ii

Expression

69614003 |Adenosylcobalamin synthesis defect (disorder)|
 <<< 42393006 |Methylmalonic acidemia (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
115650017 - Adenosylcobalamin synthesis defect (en) View
115650017	en	Synonym (core metadata concept)	Adenosylcobalamin synthesis defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
809579010 - Adenosylcobalamin synthesis defect (disorder) (en) View
809579010	en	Fully specified name (core metadata concept)	Adenosylcobalamin synthesis defect (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1216875018 - Methylmalonic acidaemia due to defects in adenosylcobalamin biosynthesis (en) View
1216875018	en	Synonym (core metadata concept)	Methylmalonic acidaemia due to defects in adenosylcobalamin biosynthesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1218362019 - Methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis (en) View
1218362019	en	Synonym (core metadata concept)	Methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1216876017 - Methylmalonic acidaemia due to defects in adenosylcobalamin biosynthesis (disorder) (en) View
1216876017	en	Synonym (core metadata concept)	Methylmalonic acidaemia due to defects in adenosylcobalamin biosynthesis (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1218364018 - Methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis (disorder) (en) View
1218364018	en	Synonym (core metadata concept)	Methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1216877014 - Vitamin B12-responsive methylmalonic acidaemia (en) View
1216877014	en	Synonym (core metadata concept)	Vitamin B12-responsive methylmalonic acidaemia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1218363012 - Vitamin B12-responsive methylmalonic acidemia (en) View
1218363012	en	Synonym (core metadata concept)	Vitamin B12-responsive methylmalonic acidemia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
115651018 - Adenosylcobalamin synthesis defect, NOS (en) View
115651018	en	Synonym (core metadata concept)	Adenosylcobalamin synthesis defect, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
115652013 - Methylmalonic aciduria, type II (en) View
115652013	en	Synonym (core metadata concept)	Methylmalonic aciduria, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (847558028) - 69614003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (847559020) - 69614003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (261288025) - 69614003 -> 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
73843004 View
73843004	Cobalamin a disease (disorder)	Cobalamin a disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
82245003 View
82245003	Cobalamin b disease (disorder)	Cobalamin b disease	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 (804eb17f-05a2-5b45-a928-283607fe916b) 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)\|

Terminology chevron_right Concepts chevron_right 69614003

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