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Terminology chevron_right Concepts chevron_right 12957008

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Disorder of phenylalanine metabolism (disorder)

Shortest Term

Disorder of phenylalanine metabolism

Definition Status

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Disorder of phenylalanine metabolism (disorder)

SCTID: 12957008, Primitive, Active

12957008|Disorder of phenylalanine metabolism (disorder)|

Expression

12957008 |Disorder of phenylalanine metabolism (disorder)|
 <<< 237911005 |Disorder of amino acid and organic acid metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
22202017 - Disorder of phenylalanine metabolism (en) View
22202017	en	Synonym (core metadata concept)	Disorder of phenylalanine metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
733719014 - Disorder of phenylalanine metabolism (disorder) (en) View
733719014	en	Fully specified name (core metadata concept)	Disorder of phenylalanine metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
22203010 - Disorder of phenylalanine metabolism, NOS (en) View
22203010	en	Synonym (core metadata concept)	Disorder of phenylalanine metabolism, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (165541023) - 12957008 -> 44779003 (116680003) View
116680003 \|Is a (attribute)\|	44779003 \|Disorder of amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (699214024) - 12957008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2688253025) - 12957008 -> 237911005 (116680003) View
116680003 \|Is a (attribute)\|	237911005 \|Disorder of amino acid and organic acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (699215020) - 12957008 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
237911005 View
237911005	Disorder of amino acid and organic acid metabolism (disorder)	Disorder of amino acid and organic acid metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
68528007 View
68528007	Hyperphenylalaninemia (disorder)	Hyperphenylalaninemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237913008 View
237913008	Disorder of tetrahydrobiopterin metabolism (disorder)	Disorder of tetrahydrobiopterin metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
297225000 View
297225000	Maternal phenylketonuria (disorder)	Maternal phenylketonuria	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 (f60c1213-cd76-5bdb-a1a9-c71d5cbd923d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.0	TRUE	ALWAYS E70.0	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)\|

Descriptions