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Terminology chevron_right Concepts chevron_right 237914002

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

6-pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)

Shortest Term

6-pyruvoyl-tetrahydropterin synthase deficiency

Definition Status

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

Summary

6-pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)

SCTID: 237914002, Primitive, Active

237914002|6-pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)|

Expression

237914002 |6-pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)|
 <<< 68724006 |Tetrahydrobiopterin synthesis defect (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356573012 - 6PTS - 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (en) View
356573012	en	Synonym (core metadata concept)	6PTS - 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
356572019 - 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (en) View
356572019	en	Synonym (core metadata concept)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
626713011 - 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) (en) View
626713011	en	Fully specified name (core metadata concept)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3518314015 - 6-Pyruvoyl-tetrahydropterin synthase deficiency (en) View
3518314015	en	Synonym (core metadata concept)	6-Pyruvoyl-tetrahydropterin synthase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (526853029) - 237914002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526852023) - 237914002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53540024) - 237914002 -> 68724006 (116680003) View
116680003 \|Is a (attribute)\|	68724006 \|Tetrahydrobiopterin synthesis defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
68724006 View
68724006	Tetrahydrobiopterin synthesis defect (disorder)	Hyperphenylalaninemia, type v	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 (23477de1-1be0-5b0e-9f14-c63bf6e218aa) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.1	TRUE	ALWAYS E70.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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