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Terminology chevron_right Concepts chevron_right 45116002

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Component

45116002

The component that hold information about this concept.

Fully Specified Name (FSN)

Sepiapterin reductase deficiency (disorder)

Shortest Term

Biopterin 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

Sepiapterin reductase deficiency (disorder)

SCTID: 45116002, Primitive, Active

45116002|Sepiapterin reductase deficiency (disorder)|

en 7,8-dihydrobiopterin synthetase deficiency
en Sepiapterin reductase deficiency
en Sepiapterin reductase deficiency (disorder)

Expression

45116002 |Sepiapterin reductase deficiency (disorder)|
 <<< 237913008 |Disorder of tetrahydrobiopterin metabolism (disorder)| + 
78548001 |Enzymopathy (disorder)| + 
68528007 |Hyperphenylalaninemia (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
75238016 - 7,8-Dihydrobiopterin synthetase deficiency (en) View
75238016	en	Synonym (core metadata concept)	7,8-Dihydrobiopterin synthetase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
75239012 - Biopterin deficiency (en) View
75239012	en	Synonym (core metadata concept)	Biopterin deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
75237014 - Sepiapterin reductase deficiency (en) View
75237014	en	Synonym (core metadata concept)	Sepiapterin reductase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
782320012 - Sepiapterin reductase deficiency (disorder) (en) View
782320012	en	Fully specified name (core metadata concept)	Sepiapterin reductase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (784736023) - 45116002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (784737025) - 45116002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (221510025) - 45116002 -> 237913008 (116680003) View
116680003 \|Is a (attribute)\|	237913008 \|Disorder of tetrahydrobiopterin metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (221511026) - 45116002 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (221512022) - 45116002 -> 68528007 (116680003) View
116680003 \|Is a (attribute)\|	68528007 \|Hyperphenylalaninemia (disorder)\|	0	900000000000011006 \|Inferred relationship (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
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	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

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 (886bfd77-a083-552e-9a7a-2c0c5b539984) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.1	TRUE	ALWAYS E70.1	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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