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Terminology chevron_right Concepts chevron_right 267451005

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)

Shortest Term

X-linked hyperuricemia

Definition Status

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

Summary

Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)

SCTID: 267451005, Primitive, Inactive

267451005|Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)|

Expression

267451005 |Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)|
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Diagram

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
398889016 - Hypoxanthine-guanine phosphoribosyltransferase deficiency (en) View
398889016	en	Synonym (core metadata concept)	Hypoxanthine-guanine phosphoribosyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
660069016 - Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) (en) View
660069016	en	Fully specified name (core metadata concept)	Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
398890013 - X-linked hyperuricaemia (en) View
398890013	en	Synonym (core metadata concept)	X-linked hyperuricaemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
398891012 - X-linked hyperuricemia (en) View
398891012	en	Synonym (core metadata concept)	X-linked hyperuricemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (88933022) - 267451005 -> 238006008 (116680003) View
116680003 \|Is a (attribute)\|	238006008 \|Disorder of purine and pyrimidine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (594889027) - 267451005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (594888024) - 267451005 -> 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

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

Descriptions