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Terminology chevron_right Concepts chevron_right 276261007

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Pterin-4-carbinolamine dehydratase deficiency (disorder)

Shortest Term

Pterin-4-carbinolamine dehydratase deficiency

Definition Status

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

Summary

Pterin-4-carbinolamine dehydratase deficiency (disorder)

SCTID: 276261007, Primitive, Active

276261007|Pterin-4-carbinolamine dehydratase deficiency (disorder)|

Expression

276261007 |Pterin-4-carbinolamine dehydratase deficiency (disorder)|
 <<< 68724006 |Tetrahydrobiopterin synthesis defect (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
412328016 - Pterin-4-carbinolamine dehydratase deficiency (en) View
412328016	en	Synonym (core metadata concept)	Pterin-4-carbinolamine dehydratase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
669155011 - Pterin-4-carbinolamine dehydratase deficiency (disorder) (en) View
669155011	en	Fully specified name (core metadata concept)	Pterin-4-carbinolamine dehydratase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (599127026) - 276261007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (599126024) - 276261007 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (93670026) - 276261007 -> 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 (58256c42-4c7f-5563-9207-60b75b7f7f35) 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)\|

Descriptions