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Terminology chevron_right Concepts chevron_right 64852002

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Component

64852002

The component that hold information about this concept.

Fully Specified Name (FSN)

Sarcosine dehydrogenase deficiency (disorder)

Shortest Term

Sarcosinemia

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

Sarcosine dehydrogenase deficiency (disorder)

SCTID: 64852002, Primitive, Active

64852002|Sarcosine dehydrogenase deficiency (disorder)|

en Deficiency of the sarcosine dehydrogenase complex
en Hypersarcosinaemia
en Hypersarcosinemia
en Sarcosinaemia
en Sarcosine dehydrogenase deficiency
en Sarcosine dehydrogenase deficiency (disorder)
en Sarcosinemia
en Sarcosinuria
en Demethylation defect of n-methylglycine

Expression

64852002 |Sarcosine dehydrogenase deficiency (disorder)|
 <<< 78548001 |Enzymopathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
83076007 |Disorder of glycine metabolism (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
107795012 - Deficiency of the sarcosine dehydrogenase complex (en) View
107795012	en	Synonym (core metadata concept)	Deficiency of the sarcosine dehydrogenase complex	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
499976019 - Hypersarcosinaemia (en) View
499976019	en	Synonym (core metadata concept)	Hypersarcosinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
107794011 - Hypersarcosinemia (en) View
107794011	en	Synonym (core metadata concept)	Hypersarcosinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
499975015 - Sarcosinaemia (en) View
499975015	en	Synonym (core metadata concept)	Sarcosinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
107791015 - Sarcosine dehydrogenase deficiency (en) View
107791015	en	Synonym (core metadata concept)	Sarcosine dehydrogenase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
804291015 - Sarcosine dehydrogenase deficiency (disorder) (en) View
804291015	en	Fully specified name (core metadata concept)	Sarcosine dehydrogenase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
107793017 - Sarcosinemia (en) View
107793017	en	Synonym (core metadata concept)	Sarcosinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
107792010 - Sarcosinuria (en) View
107792010	en	Synonym (core metadata concept)	Sarcosinuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
107796013 - Demethylation defect of N-methylglycine (en) View
107796013	en	Synonym (core metadata concept)	Demethylation defect of N-methylglycine	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (835842023) - 64852002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2695185023) - 64852002 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (835843029) - 64852002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (253597024) - 64852002 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (253598025) - 64852002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (253599022) - 64852002 -> 83076007 (116680003) View
116680003 \|Is a (attribute)\|	83076007 \|Disorder of glycine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
83076007 View
83076007	Disorder of glycine metabolism (disorder)	Disorder of glycine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	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 (b7509d87-2b60-5ff9-8119-a80be2e09565) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.5	TRUE	ALWAYS E72.5	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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