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Terminology chevron_right Concepts chevron_right 42393006

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Component

42393006

The component that hold information about this concept.

Fully Specified Name (FSN)

Methylmalonic acidemia (disorder)

Shortest Term

Methylmalonic acidemia

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

Methylmalonic acidemia (disorder)

SCTID: 42393006, Primitive, Active

42393006|Methylmalonic acidemia (disorder)|

en Methylmalonic acidaemia
en Methylmalonic acidemia
en Methylmalonic acidemia (disorder)
en Mma - methylmalonic aciduria

Expression

42393006 |Methylmalonic acidemia (disorder)|
 <<< 70731005 |Acidemia (disorder)| + 
26513001 |Non-amino organic acidemia and/or aciduria (disorder)| + 
116020001 |Disorder of branched-chain amino acid metabolism (disorder)| + 
84618009 |Disorder of propionate and/or methylmalonate metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
493300012 - Methylmalonic acidaemia (en) View
493300012	en	Synonym (core metadata concept)	Methylmalonic acidaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
70730010 - Methylmalonic acidemia (en) View
70730010	en	Synonym (core metadata concept)	Methylmalonic acidemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
779287015 - Methylmalonic acidemia (disorder) (en) View
779287015	en	Fully specified name (core metadata concept)	Methylmalonic acidemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1229858012 - MMA - Methylmalonic aciduria (en) View
1229858012	en	Synonym (core metadata concept)	MMA - Methylmalonic aciduria	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
70731014 - Methylmalonic acidemia, NOS (en) View
70731014	en	Synonym (core metadata concept)	Methylmalonic acidemia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (778121028) - 42393006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (778122024) - 42393006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (217126027) - 42393006 -> 70731005 (116680003) View
116680003 \|Is a (attribute)\|	70731005 \|Acidemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (217127020) - 42393006 -> 26513001 (116680003) View
116680003 \|Is a (attribute)\|	26513001 \|Non-amino organic acidemia and/or aciduria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (217128026) - 42393006 -> 116020001 (116680003) View
116680003 \|Is a (attribute)\|	116020001 \|Disorder of branched-chain amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (217129023) - 42393006 -> 84618009 (116680003) View
116680003 \|Is a (attribute)\|	84618009 \|Disorder of propionate and/or methylmalonate metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
26513001 View
26513001	Non-amino organic acidemia and/or aciduria (disorder)	Non-amino organic acidemia and/or aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70731005 View
70731005	Acidemia (disorder)	Acidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
84618009 View
84618009	Disorder of propionate and/or methylmalonate metabolism (disorder)	Disorder of propionate and/or methylmalonate metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
116020001 View
116020001	Disorder of branched-chain amino acid metabolism (disorder)	Branched chain amino acid metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
765137006 View
765137006	Methylmalonic acidemia due to methylmalonyl-coenzyme a epimerase deficiency (disorder)	Methylmalonic acidemia due to methylmalonyl-coa racemase deficiency	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1197052008 View
1197052008	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)	Booth haworth dilling syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771444002 View
771444002	Methylmalonic aciduria due to transcobalamin receptor defect (disorder)	Methylmalonic acidemia tcb1r type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715338007 View
715338007	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Fatal infantile lactic acidosis with methylmalonic aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702365002 View
702365002	Combined malonic and methylmalonic aciduria (disorder)	Combined malonic and methylmalonic aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
4409006 View
4409006	Adenosylcobalamin and methylcobalamin synthesis defect (disorder)	Adenosylcobalamin and methylcobalamin synthesis defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
69614003 View
69614003	Adenosylcobalamin synthesis defect (disorder)	Methylmalonic aciduria, type ii	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 (01a71e3e-3564-5c09-af79-6b6d9a48456f) 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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