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Terminology chevron_right Concepts chevron_right 10406007

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Component

10406007

The component that hold information about this concept.

Fully Specified Name (FSN)

Lesch-nyhan syndrome (disorder)

Shortest Term

Hgprt 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

Lesch-nyhan syndrome (disorder)

SCTID: 10406007, Primitive, Active

10406007|Lesch-nyhan syndrome (disorder)|

en Choreoathetosis self-mutilation syndrome
en Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
en Hypoxanthine-guanine phosphoribosyltransferase deficiency
en X-linked hyperuricaemia
en X-linked hyperuricemia
en Lesch-nyhan syndrome (disorder)
en Complete hgprt deficiency
en Hgprt deficiency
en Hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency
en Lesch-nyhan disease
en Lesch-nyhan syndrome
en Total hgprt deficiency

Expression

10406007 |Lesch-nyhan syndrome (disorder)|
 <<< 35885006 |Hyperuricemia (disorder)| + 
124275001 |Deficiency of hypoxanthine phosphoribosyltransferase (disorder)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 270984004 |Blood urate measurement (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
18116010 - Choreoathetosis self-mutilation syndrome (en) View
18116010	en	Synonym (core metadata concept)	Choreoathetosis self-mutilation syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
272184010 - Complete hypoxanthine-guanine phosphoribosyltransferase deficiency (en) View
272184010	en	Synonym (core metadata concept)	Complete hypoxanthine-guanine phosphoribosyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
272186012 - Hypoxanthine-guanine phosphoribosyltransferase deficiency (en) View
272186012	en	Synonym (core metadata concept)	Hypoxanthine-guanine phosphoribosyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2774366019 - X-linked hyperuricaemia (en) View
2774366019	en	Synonym (core metadata concept)	X-linked hyperuricaemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2772305019 - X-linked hyperuricemia (en) View
2772305019	en	Synonym (core metadata concept)	X-linked hyperuricemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
558397016 - Lesch-Nyhan syndrome (disorder) (en) View
558397016	en	Fully specified name (core metadata concept)	Lesch-Nyhan syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
18115014 - Complete HGPRT deficiency (en) View
18115014	en	Synonym (core metadata concept)	Complete HGPRT deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
272182014 - HGPRT deficiency (en) View
272182014	en	Synonym (core metadata concept)	HGPRT deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
272183016 - HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency (en) View
272183016	en	Synonym (core metadata concept)	HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
272185011 - Lesch-Nyhan disease (en) View
272185011	en	Synonym (core metadata concept)	Lesch-Nyhan disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
18114013 - Lesch-Nyhan syndrome (en) View
18114013	en	Synonym (core metadata concept)	Lesch-Nyhan syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
18117018 - Total HGPRT deficiency (en) View
18117018	en	Synonym (core metadata concept)	Total HGPRT deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16206907026) - 10406007 -> 270984004 (363714003) View
363714003 \|Interprets (attribute)\|	270984004 \|Blood urate measurement (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16206908020) - 10406007 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10742026) - 10406007 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14013721023) - 10406007 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (442961020) - 10406007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10741022) - 10406007 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10743020) - 10406007 -> 267451005 (116680003) View
116680003 \|Is a (attribute)\|	267451005 \|Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3287614020) - 10406007 -> 124275001 (116680003) View
116680003 \|Is a (attribute)\|	124275001 \|Deficiency of hypoxanthine phosphoribosyltransferase (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (442962029) - 10406007 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (442960021) - 10406007 -> 87612001 (363698007) View
363698007 \|Finding site (attribute)\|	87612001 \|Blood (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10740023) - 10406007 -> 35885006 (116680003) View
116680003 \|Is a (attribute)\|	35885006 \|Hyperuricemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
35885006 View
35885006	Hyperuricemia (disorder)	Uricacidemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124275001 View
124275001	Deficiency of hypoxanthine phosphoribosyltransferase (disorder)	Deficiency of imp pyrophosphorylase	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 (677426c3-9ce4-53a8-ac2e-d1bf7193d47b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E79.1	TRUE	ALWAYS E79.1	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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