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Terminology chevron_right Concepts chevron_right 124274002

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Component

124274002

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of adenine phosphoribosyltransferase (disorder)

Shortest Term

Deficiency of amp pyrophorylase

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

Deficiency of adenine phosphoribosyltransferase (disorder)

SCTID: 124274002, Primitive, Active

124274002|Deficiency of adenine phosphoribosyltransferase (disorder)|

en Deficiency of adenine phosphoribosyltransferase
en Adenine phosphoribosyl transferase deficiency
en Deficiency of adenine phosphoribosyltransferase (disorder)
en Deficiency of amp pyrophorylase

Expression

124274002 |Deficiency of adenine phosphoribosyltransferase (disorder)|
 <<< 124237001 |Deficiency of transferase (disorder)| + 
32612005 |Disorder of purine metabolism (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
203918015 - Deficiency of adenine phosphoribosyltransferase (en) View
203918015	en	Synonym (core metadata concept)	Deficiency of adenine phosphoribosyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1220689016 - Adenine phosphoribosyl transferase deficiency (en) View
1220689016	en	Synonym (core metadata concept)	Adenine phosphoribosyl transferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
727844016 - Deficiency of adenine phosphoribosyltransferase (disorder) (en) View
727844016	en	Fully specified name (core metadata concept)	Deficiency of adenine phosphoribosyltransferase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
203917013 - Deficiency of AMP pyrophorylase (en) View
203917013	en	Synonym (core metadata concept)	Deficiency of AMP pyrophorylase	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
203916016 - Deficiency of transphosphoribosidase (en) View
203916016	en	Synonym (core metadata concept)	Deficiency of transphosphoribosidase	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (690242028) - 124274002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (690241024) - 124274002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157262023) - 124274002 -> 124237001 (116680003) View
116680003 \|Is a (attribute)\|	124237001 \|Deficiency of transferase (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (157263029) - 124274002 -> 32612005 (116680003) View
116680003 \|Is a (attribute)\|	32612005 \|Disorder of purine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (157264024) - 124274002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124237001 View
124237001	Deficiency of transferase (disorder)	Deficiency of transferase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
65791008 View
65791008	Adenine phosphoribosyltransferase (aprt) deficiency, japanese type (disorder)	Aprt deficiency, japanese type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238009001 View
238009001	Adenine phosphoribosyl transferase deficiency type i (disorder)	Adenine phosphoribosyl transferase deficiency type i	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238010006 View
238010006	Adenine phosphoribosyl transferase deficiency type ii (disorder)	Adenine phosphoribosyl transferase deficiency type ii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (008b84a4-2912-5837-8292-7073d8abdace) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D81.3	TRUE	ALWAYS D81.3	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)\|

Terminology chevron_right Concepts chevron_right 124274002

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