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Terminology chevron_right Concepts chevron_right 32612005

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Component

32612005

The component that hold information about this concept.

Fully Specified Name (FSN)

Disorder of purine metabolism (disorder)

Shortest Term

Disorder of purine metabolism

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

Disorder of purine metabolism (disorder)

SCTID: 32612005, Primitive, Active

32612005|Disorder of purine metabolism (disorder)|

en Disorder of purine metabolism
en Disorder of purine metabolism (disorder)

Expression

32612005 |Disorder of purine metabolism (disorder)|
 <<< 238006008 |Disorder of purine and pyrimidine metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
54443017 - Disorder of purine metabolism (en) View
54443017	en	Synonym (core metadata concept)	Disorder of purine metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
763917013 - Disorder of purine metabolism (disorder) (en) View
763917013	en	Fully specified name (core metadata concept)	Disorder of purine metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
54444011 - Disorder of purine metabolism, NOS (en) View
54444011	en	Synonym (core metadata concept)	Disorder of purine metabolism, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (753554020) - 32612005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (753553025) - 32612005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (201088025) - 32612005 -> 238006008 (116680003) View
116680003 \|Is a (attribute)\|	238006008 \|Disorder of purine and pyrimidine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
238006008 View
238006008	Disorder of purine and pyrimidine metabolism (disorder)	Purine and pyrimidine metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1367655003 View
1367655003	Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)	Paics deficiency disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
35885006 View
35885006	Hyperuricemia (disorder)	Uricacidemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1208747005 View
1208747005	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)	Martsolf-like syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783734000 View
783734000	Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder)	Hội chứng suy giảm dna ty thể, dạng gan não do thiếu dguok	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
781386002 View
781386002	Deficiency of nudix hydrolase 15 (disorder)	Nudt15 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
90560007 View
90560007	Gout (disorder)	Gout	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
723454008 View
723454008	Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Phosphoribosylpyrophosphate synthetase superactivity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725289009 View
725289009	5-amino-4-imidazole carboxamide ribosiduria (disorder)	5-amino-4-imidazole carboxamide ribosiduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732246009 View
732246009	X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
4519003 View
4519003	Hypouricemia (disorder)	Hypouricemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
5315003 View
5315003	Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)	Adenosine deaminase superactivity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
9105005 View
9105005	Muscle adenosine monophosphate deaminase deficiency (disorder)	Muscle amp deaminase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
15285008 View
15285008	Adenylosuccinate lyase deficiency (disorder)	Succinyladenosinuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
16813005 View
16813005	Hyperuricuria (disorder)	Uricaciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
35759001 View
35759001	Ribose-phosphate pyrophosphokinase overactivity (disorder)	Prps overactivity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
44940001 View
44940001	Adenosine deaminase deficiency (disorder)	Ada deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54627004 View
54627004	Hereditary xanthinuria (disorder)	Classical xanthinuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
60743005 View
60743005	Purine-nucleoside phosphorylase deficiency (disorder)	Np deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124274002 View
124274002	Deficiency of adenine phosphoribosyltransferase (disorder)	Deficiency of amp pyrophorylase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238011005 View
238011005	Inosine triphosphate pyrophosphohydrolase deficiency (disorder)	Itpase - inosine triphosphatase deficiency	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 (edd91380-744c-5d58-b04b-ed0428ba7014) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E79.8	TRUE	ALWAYS E79.8	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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