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Terminology chevron_right Concepts chevron_right 67845009

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Component

67845009

The component that hold information about this concept.

Fully Specified Name (FSN)

Aminomethyltransferase deficiency (disorder)

Shortest Term

T protein 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

Aminomethyltransferase deficiency (disorder)

SCTID: 67845009, Primitive, Active

67845009|Aminomethyltransferase deficiency (disorder)|

en Tetrahydrofolate aminomethyltransferase deficiency
en Aminomethyltransferase deficiency
en Aminomethyltransferase deficiency (disorder)
en Non-ketotic hyperglycinaemia t protein deficiency
en Non-ketotic hyperglycinaemia type ii
en Nonketotic hyperglycinaemia, type ii
en Non-ketotic hyperglycinemia t protein deficiency
en Non-ketotic hyperglycinemia type ii
en Nonketotic hyperglycinemia, type ii
en T protein deficiency
en T-protein deficiency

Expression

67845009 |Aminomethyltransferase deficiency (disorder)|
 <<< 237939006 |Non-ketotic hyperglycinemia (disorder)| + 
78548001 |Enzymopathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (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
112701014 - Tetrahydrofolate aminomethyltransferase deficiency (en) View
112701014	en	Synonym (core metadata concept)	Tetrahydrofolate aminomethyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
112699014 - Aminomethyltransferase deficiency (en) View
112699014	en	Synonym (core metadata concept)	Aminomethyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
807614010 - Aminomethyltransferase deficiency (disorder) (en) View
807614010	en	Fully specified name (core metadata concept)	Aminomethyltransferase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
500860014 - Non-ketotic hyperglycinaemia T protein deficiency (en) View
500860014	en	Synonym (core metadata concept)	Non-ketotic hyperglycinaemia T protein deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
500861013 - Non-ketotic hyperglycinaemia type II (en) View
500861013	en	Synonym (core metadata concept)	Non-ketotic hyperglycinaemia type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
500857019 - Nonketotic hyperglycinaemia, type II (en) View
500857019	en	Synonym (core metadata concept)	Nonketotic hyperglycinaemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
500858012 - Non-ketotic hyperglycinemia T protein deficiency (en) View
500858012	en	Synonym (core metadata concept)	Non-ketotic hyperglycinemia T protein deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
500859016 - Non-ketotic hyperglycinemia type II (en) View
500859016	en	Synonym (core metadata concept)	Non-ketotic hyperglycinemia type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
112702019 - Nonketotic hyperglycinemia, type II (en) View
112702019	en	Synonym (core metadata concept)	Nonketotic hyperglycinemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
500856011 - T protein deficiency (en) View
500856011	en	Synonym (core metadata concept)	T protein deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
112700010 - T-protein deficiency (en) View
112700010	en	Synonym (core metadata concept)	T-protein deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (843466020) - 67845009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2695585025) - 67845009 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (843467027) - 67845009 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (258453020) - 67845009 -> 237939006 (116680003) View
116680003 \|Is a (attribute)\|	237939006 \|Non-ketotic hyperglycinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (258454025) - 67845009 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (258455029) - 67845009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (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
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
237939006 View
237939006	Non-ketotic hyperglycinemia (disorder)	Non ketotic hyperglycinemia	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 (b322fa4d-0193-513c-b4f5-66611372946c) 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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