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32612005: stoornis in purinemetabolisme (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of purine metabolism	Is a	Disorder of purine and pyrimidine metabolism	true	Inferred relationship	Some
Disorder of purine metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of purine metabolism	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Inosine triphosphate pyrophosphohydrolase deficiency	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Thiopurine methyltransferase deficiency	Is a	False	Disorder of purine metabolism	Inferred relationship	Some
Deficiency of AMP pyrophorylase	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Adenylosuccinate lyase deficiency	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Hyperuricuria	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Ribose-phosphate pyrophosphokinase overactivity	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Hypouricemia	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Uric acid level above reference range (finding)	Is a	False	Disorder of purine metabolism	Inferred relationship	Some
Hereditary xanthinuria	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Uric acid level below reference range (finding)	Is a	False	Disorder of purine metabolism	Inferred relationship	Some
Gout	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Hyperuricemia	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
5-amino-4-imidazole carboxamide ribosiduria (disorder)	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
NUDT15 deficiency	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Chronic tophaceous gout	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	True	Disorder of purine metabolism	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)	Is a	True	Disorder of purine metabolism	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
54443017	Disorder of purine metabolism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
763917013	Disorder of purine metabolism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1531211000146111	stoornis van purinemetabolisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2378401000146117	stoornis in purinemetabolisme (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2378411000146115	stoornis in purinemetabolisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)