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Terminology chevron_right Concepts chevron_right 60743005

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Component

60743005

The component that hold information about this concept.

Fully Specified Name (FSN)

Purine-nucleoside phosphorylase deficiency (disorder)

Shortest Term

Np 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

Purine-nucleoside phosphorylase deficiency (disorder)

SCTID: 60743005, Primitive, Active

60743005|Purine-nucleoside phosphorylase deficiency (disorder)|

en Deficiency of inosine phosphorylase
en Deficiency of purine-nucleoside phosphorylase
en Nucleoside phosphorylase deficiency
en Purine nucleoside phosphorylase deficiency
en Purine-nucleoside phosphorylase deficiency
en Purine-nucleoside phosphorylase deficiency (disorder)
en Np deficiency
en Np - nucleoside phosphorylase deficiency
en Pnp deficiency
en Pnp - purine nucleoside phosphorylase deficiency

Expression

60743005 |Purine-nucleoside phosphorylase deficiency (disorder)|
 <<< 78548001 |Enzymopathy (disorder)| + 
32612005 |Disorder of purine metabolism (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
36138009 |Congenital immunodeficiency disease (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
498842017 - Deficiency of inosine phosphorylase (en) View
498842017	en	Synonym (core metadata concept)	Deficiency of inosine phosphorylase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
498840013 - Deficiency of purine-nucleoside phosphorylase (en) View
498840013	en	Synonym (core metadata concept)	Deficiency of purine-nucleoside phosphorylase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
100933011 - Nucleoside phosphorylase deficiency (en) View
100933011	en	Synonym (core metadata concept)	Nucleoside phosphorylase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
198990011 - Purine nucleoside phosphorylase deficiency (en) View
198990011	en	Synonym (core metadata concept)	Purine nucleoside phosphorylase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
100930014 - Purine-nucleoside phosphorylase deficiency (en) View
100930014	en	Synonym (core metadata concept)	Purine-nucleoside phosphorylase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
799729013 - Purine-nucleoside phosphorylase deficiency (disorder) (en) View
799729013	en	Fully specified name (core metadata concept)	Purine-nucleoside phosphorylase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
100932018 - NP deficiency (en) View
100932018	en	Synonym (core metadata concept)	NP deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
498841012 - NP - Nucleoside phosphorylase deficiency (en) View
498841012	en	Synonym (core metadata concept)	NP - Nucleoside phosphorylase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
100934017 - Nucleoside phophorylase deficiency (en) View
100934017	en	Synonym (core metadata concept)	Nucleoside phophorylase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
100931013 - PNP deficiency (en) View
100931013	en	Synonym (core metadata concept)	PNP deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
498839011 - PNP - Purine nucleoside phosphorylase deficiency (en) View
498839011	en	Synonym (core metadata concept)	PNP - Purine nucleoside phosphorylase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (825326026) - 60743005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11170311022) - 60743005 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2735100029) - 60743005 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (246928029) - 60743005 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (825327024) - 60743005 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (246926025) - 60743005 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (246927023) - 60743005 -> 32612005 (116680003) View
116680003 \|Is a (attribute)\|	32612005 \|Disorder of purine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (246929021) - 60743005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (246930027) - 60743005 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
32612005 View
32612005	Disorder of purine metabolism (disorder)	Disorder of purine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36138009 View
36138009	Congenital immunodeficiency disease (disorder)	Congenital immunodeficiency disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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 (f5c5a2c4-bab2-5664-9d16-5074d12d3b48) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D81.5	TRUE	ALWAYS D81.5	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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