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32612005: Disorder of purine metabolism (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
303011000077113 troubles du métabolisme des purines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
54443017 Disorder of purine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
585901000077113 troubles du métabolisme des purines (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
763917013 Disorder of purine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
893781000172114 trouble du métabolisme de la purine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


179 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
troubles du métabolisme des purines est un(e) (attribut) Disorder of purine and pyrimidine metabolism true Inferred relationship Some
troubles du métabolisme des purines localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
troubles du métabolisme des purines survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
NUDT15 deficiency est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Chronic tophaceous gout est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Deficiency of AMP pyrophorylase est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Adenylosuccinate lyase deficiency est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Hyperuricuria est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Ribose-phosphate pyrophosphokinase overactivity est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Adenosine deaminase deficiency est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Hypouricaemia est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Increased uric acid level (finding) est un(e) (attribut) False troubles du métabolisme des purines Inferred relationship Some
xanthinurie héréditaire (trouble) est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Purine-nucleoside phosphorylase deficiency est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Decreased uric acid level est un(e) (attribut) False troubles du métabolisme des purines Inferred relationship Some
Gout est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Muscle AMP deaminase deficiency est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
hyperuricémie (trouble) est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Inosine triphosphate pyrophosphohydrolase deficiency est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
Thiopurine methyltransferase deficiency est un(e) (attribut) False troubles du métabolisme des purines Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder) est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria (disorder) est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-diabète insipide est un(e) (attribut) True troubles du métabolisme des purines Inferred relationship Some

This concept is not in any reference sets

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