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836343001: Hereditary xanthinuria type 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3890977016 Hereditary xanthinuria type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3890978014 Hereditary xanthinuria type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3890981016 Xanthinuria type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3891025019 A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, haematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3891026018 A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, hematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary xanthinuria type 1 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Hereditary xanthinuria type 1 Is a Hereditary xanthinuria true Inferred relationship Some
Hereditary xanthinuria type 1 Due to Deficiency of xanthine oxidase (disorder) false Inferred relationship Some 1
Hereditary xanthinuria type 1 Finding site Kidney structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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