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Terminology chevron_right Concepts chevron_right 89579000

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Component

89579000

The component that hold information about this concept.

Fully Specified Name (FSN)

Tetrahydrofolate methyltransferase deficiency (disorder)

Shortest Term

Thf methyltransferase deficiency

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

Tetrahydrofolate methyltransferase deficiency (disorder)

SCTID: 89579000, Primitive, Active

89579000|Tetrahydrofolate methyltransferase deficiency (disorder)|

en Tetrahydrofolate methyltransferase deficiency
en Tetrahydrofolate methyltransferase deficiency (disorder)
en Thf methyltransferase deficiency

Expression

89579000 |Tetrahydrofolate methyltransferase deficiency (disorder)|
 <<< 78548001 |Enzymopathy (disorder)| + 
28882002 |Disorder of sulfur-bearing amino acid metabolism (disorder)| + 
4702003 |Inherited disorder of folate metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
148520014 - Tetrahydrofolate methyltransferase deficiency (en) View
148520014	en	Synonym (core metadata concept)	Tetrahydrofolate methyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
832501014 - Tetrahydrofolate methyltransferase deficiency (disorder) (en) View
832501014	en	Fully specified name (core metadata concept)	Tetrahydrofolate methyltransferase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
148521013 - THF methyltransferase deficiency (en) View
148521013	en	Synonym (core metadata concept)	THF methyltransferase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (899181026) - 89579000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (899180025) - 89579000 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294578023) - 89579000 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (294579026) - 89579000 -> 28882002 (116680003) View
116680003 \|Is a (attribute)\|	28882002 \|Disorder of sulfur-bearing amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (294580028) - 89579000 -> 4702003 (116680003) View
116680003 \|Is a (attribute)\|	4702003 \|Inherited disorder of folate metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
4702003 View
4702003	Inherited disorder of folate metabolism (disorder)	Inherited disorder of folate metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
28882002 View
28882002	Disorder of sulfur-bearing amino acid metabolism (disorder)	Sulfuraminoacidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	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 (47010292-55ab-56e1-a60b-f4a927bf3a70) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.1	TRUE	ALWAYS E72.1	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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